Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PIK3R1: M326I

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Facial Skin Microbiome: Aging-Related Changes and Exploratory Functional Associations with Host Genetic Factors, a Pilot Study.

Biomedicines

Russo, Edda E; Di Gloria, Leandro L; Cerboneschi, Matteo M; Smeazzetto, Serena S; Baruzzi, Gian Paolo GP; Romano, Francesca F; Ramazzotti, Matteo M; Amedei, Amedeo A

Publication Date: 2023-02-23

Variant appearance in text: rs3730089

PubMed Link: 36979663

Variant Present in the following documents:

• biomedicines-11-00684.pdf

View BVdb publication page

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Incorporating multi-stage diagnosis status to mine associations between genetic risk variants and the multi-modality phenotype network in major depressive disorder.

Frontiers In Psychiatry

Zhang, Li L; Pang, Mengqian M; Liu, Xiaoyun X; Hao, Xiaoke X; Wang, Meiling M; Xie, Chunming C; Zhang, Zhijun Z; Yuan, Yonggui Y; Zhang, Daoqiang D

Publication Date: 2023

Variant appearance in text: rs3730089

PubMed Link: 36937715

Variant Present in the following documents:

• Main text
• fpsyt-14-1139451.pdf

View BVdb publication page

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Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C

Publication Date: 2023-01-17

Variant appearance in text: PIK3R1: 978G>A; M326I

PubMed Link: 36648487

Variant Present in the following documents:

• ccr-22-2903_supplementary_data_2_suppds2.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.

Life (Basel, Switzerland)

Mir, Rashid R; Elfaki, Imadeldin I; Javid, Jamsheed J; Barnawi, Jameel J; Altayar, Malik A MA; Albalawi, Salem Owaid SO; Jalal, Mohammed M MM; Tayeb, Faris J FJ; Yousif, Aadil A; Ullah, Mohammad Fahad MF; AbuDuhier, Faisel M FM

Publication Date: 2022-11-16

Variant appearance in text: rs3730089

PubMed Link: 36431040

Variant Present in the following documents:

• life-12-01905.pdf

View BVdb publication page

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Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Medicina (Kaunas, Lithuania)

Alzahrani, Othman R OR; Alatwi, Hanan E HE; Alharbi, Amnah A AA; Alessa, Abdulrahman H AH; Al-Amer, Osama M OM; Alanazi, Abeer F R AFR; Shams, Anwar M AM; Alomari, Esra'a E; Naser, Abdallah Y AY; Alzahrani, Faisal A FA; Hosawi, Salman S; Alghamdi, Saeed M SM; Abdali, Wed A WA; Elfaki, Imadeldin I; Hawsawi, Yousef M YM

Publication Date: 2022-11-16

Variant appearance in text: rs3730089

PubMed Link: 36422197

Variant Present in the following documents:

• medicina-58-01657.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: PIK3R1: M326I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular Determination of Vascular Endothelial Growth Factor, miRNA-423 Gene Abnormalities by Utilizing ARMS-PCR and Their Association with Fetal Hemoglobin Expression in the Patients with Sickle Cell Disease.

Current Issues In Molecular Biology

Hamadi, Abdullah A; Mir, Rashid R; Mahzari, Ali A; Hakami, Abdulrahim A; Almotairi, Reema R; Dobie, Gasim G; Hamdi, Fawaz F; Nahari, Mohammed Hassan MH; Alhefzi, Razan R; Alasseiri, Mohammed M; Hakami, Nora Y NY; Al Sadoun, Hadeel H; Al-Amer, Osama M OM; Barnawi, Jameel J; Madkhali, Hassan A HA

Publication Date: 2022-06-01

Variant appearance in text: rs3730089

PubMed Link: 35735616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Identification of Immune Hub Genes Associated With Braak Stages in Alzheimer's Disease and Their Correlation of Immune Infiltration.

Frontiers In Aging Neuroscience

Qian, Xiao-Hang XH; Liu, Xiao-Li XL; Chen, Sheng-di SD; Tang, Hui-Dong HD

Publication Date: 2022

Variant appearance in text: PIK3R1: Met326Ile

PubMed Link: 35619939

Variant Present in the following documents:

• Main text
• fnagi-14-887168.pdf

View BVdb publication page

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Clinical Implications of Krüpple-like Transcription Factor KLF-14 and Certain Micro-RNA (miR-27a, miR-196a2, miR-423) Gene Variations as a Risk Factor in the Genetic Predisposition to PCOS.

Journal Of Personalized Medicine

Mir, Rashid R; Saeedi, Nizar H NH; Jalal, Mohammed M MM; Altayar, Malik A MA; Barnawi, Jameel J; Hamadi, Abdullah A; Tayeb, Faris J FJ; Alshammari, Sanad E SE; Mtiraoui, Nabil N; M Ali, Mohammed Eltigani ME; Abuduhier, Faisel M FM; Ullah, Mohammad Fahad MF

Publication Date: 2022-04-06

Variant appearance in text: rs3730089

PubMed Link: 35455702

Variant Present in the following documents:

• jpm-12-00586.pdf

View BVdb publication page

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A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Frontiers In Oncology

Tirrò, Elena E; Massimino, Michele M; Broggi, Giuseppe G; Romano, Chiara C; Minasi, Simone S; Gianno, Francesca F; Antonelli, Manila M; Motta, Gianmarco G; Certo, Francesco F; Altieri, Roberto R; Manzella, Livia L; Caltabiano, Rosario R; Barbagallo, Giuseppe Maria Vincenzo GMV; Buttarelli, Francesca Romana FR; Magro, Gaetano G; Giangaspero, Felice F; Vigneri, Paolo P

Publication Date: 2022

Variant appearance in text: PIK3R1: Met326Ile

PubMed Link: 35372034

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: PIK3R1: 978G>A; rs3730089

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: PIK3R1: 978G>A; M326I

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Biomedicines

Chu, Yu-De YD; Kee, Kwong-Ming KM; Lin, Wey-Ran WR; Lai, Ming-Wei MW; Lu, Sheng-Nan SN; Chung, Wen-Hung WH; Pang, See-Tong ST; Yeh, Chau-Ting CT

Publication Date: 2021-12-02

Variant appearance in text: PIK3R1: 978G>A; M326I

PubMed Link: 34944636

Variant Present in the following documents:

• Main text
• biomedicines-09-01819.pdf

View BVdb publication page

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Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: PIK3R1: 978G>A; Met326Ile

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s007.xlsx, sheet 3

View BVdb publication page

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Clinical Implications of MiR128, Angiotensin I Converting Enzyme and Vascular Endothelial Growth Factor Gene Abnormalities and Their Association with T2D.

Current Issues In Molecular Biology

Elfaki, Imadeldin I; Mir, Rashid R; Duhier, Faisel M Abu FMA; Alotaibi, Maeidh A MA; Alalawy, Adel Ibrahim AI; Barnawi, Jameel J; Babakr, Abdullatif Taha AT; Mir, Mohammad Muzaffar MM; Altayeb, Faris F; Mirghani, Hyder H; Frah, Ehab A M EAM

Publication Date: 2021-11-02

Variant appearance in text: rs3730089

PubMed Link: 34889890

Variant Present in the following documents:

• cimb-43-00130.pdf

View BVdb publication page

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Molecular Determination of mirRNA-126 rs4636297, Phosphoinositide-3-Kinase Regulatory Subunit 1-Gene Variability rs7713645, rs706713 (Tyr73Tyr), rs3730089 (Met326Ile) and Their Association with Susceptibility to T2D.

Journal Of Personalized Medicine

Mir, Rashid R; Elfaki, Imadeldin I; Duhier, Faisel M Abu FMA; Alotaibi, Maeidh A MA; AlAlawy, Adel Ibrahim AI; Barnawi, Jameel J; Babakr, Abdullatif Taha AT; Mir, Mohammad Muzaffar MM; Mirghani, Hyder H; Hamadi, Abdullah A; Dabla, Pradeep Kumar PK

Publication Date: 2021-08-29

Variant appearance in text: PIK3R1: Met326Ile; rs3730089

PubMed Link: 34575638

Variant Present in the following documents:

• Main text
• jpm-11-00861.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 13
• CTM2-11-e285-s003.xlsx, sheet 17

View BVdb publication page

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Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer

Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D

Publication Date: 2020-08

Variant appearance in text: PIK3R1: 978G>A; M326I; rs3730089

PubMed Link: 32908788

Variant Present in the following documents:

• jbc-23-373-s004.xls, sheet 1

View BVdb publication page

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Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Bmc Cancer

Lee, Sun-Young SY; Chae, Dong-Kyu DK; Lee, Sung-Hun SH; Lim, Yohan Y; An, Jahyun J; Chae, Chang Hoon CH; Kim, Byung Chul BC; Bhak, Jong J; Bolser, Dan D; Cho, Dong-Hyu DH

Publication Date: 2020-07-27

Variant appearance in text: PIK3R1: 978G>A; M326I

PubMed Link: 32718341

Variant Present in the following documents:

• 12885_2020_7161_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Optimization of a WGA-Free Molecular Tagging-Based NGS Protocol for CTCs Mutational Profiling.

International Journal Of Molecular Sciences

De Luca, Giuseppa G; Cardinali, Barbara B; Del Mastro, Lucia L; Lastraioli, Sonia S; Carli, Franca F; Ferrarini, Manlio M; Calin, George A GA; Garuti, Anna A; Mazzitelli, Carlotta C; Zupo, Simona S; Dono, Mariella M

Publication Date: 2020-06-19

Variant appearance in text: PIK3R1: Met326Ile

PubMed Link: 32575430

Variant Present in the following documents:

• Main text
• ijms-21-04364.pdf

View BVdb publication page

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Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden.

Nature Communications

Qing, Tao T; Mohsen, Hussein H; Marczyk, Michal M; Ye, Yixuan Y; O'Meara, Tess T; Zhao, Hongyu H; Townsend, Jeffrey P JP; Gerstein, Mark M; Hatzis, Christos C; Kluger, Yuval Y; Pusztai, Lajos L

Publication Date: 2020-05-15

Variant appearance in text: rs3730089

PubMed Link: 32415133

Variant Present in the following documents:

• Main text
• 41467_2020_Article_16293.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: PIK3R1: 978G>A; Met326Ile

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: N/A

PubMed Link: 31900393

Variant Present in the following documents:

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: PIK3R1: 978G>A; Met326Ile

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 6

View BVdb publication page

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Drug screening approach combines epigenetic sensitization with immunochemotherapy in cancer.

Clinical Epigenetics

Facciotto, Chiara C; Casado, Julia J; Turunen, Laura L; Leivonen, Suvi-Katri SK; Tumiati, Manuela M; Rantanen, Ville V; Kauppi, Liisa L; Lehtonen, Rainer R; Leppä, Sirpa S; Wennerberg, Krister K; Hautaniemi, Sampsa S

Publication Date: 2019-12-11

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 31829282

Variant Present in the following documents:

• 13148_2019_781_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Establishment and characterization of novel human primary endometrial cancer cell line (ZJB-ENC1) and its genomic characteristic.

Journal Of Cancer

Liu, Xiaozhen X; Ren, Zhuozhuo Z; Xu, Yu Y; Sun, Wei W; Li, Yongfeng Y; Rui, Xinmiao X; Xie, Dafei D; Meng, Xuli X; Zheng, Zhiguo Z

Publication Date: 2019

Variant appearance in text: rs3730089

PubMed Link: 31772679

Variant Present in the following documents:

• Main text
• jcav10p6466.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PIK3R1: 978G>A; Met326Ile; rs3730089

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and Lineage Classification of Glioma-Initiating Cells Identifies a Clinically Relevant Glioblastoma Model.

Cancers

Saito, Norihiko N; Hirai, Nozomi N; Aoki, Kazuya K; Sato, Sho S; Suzuki, Ryo R; Hiramoto, Yu Y; Fujita, Satoshi S; Nakayama, Haruo H; Hayashi, Morito M; Sakurai, Takatoshi T; Iwabuchi, Satoshi S

Publication Date: 2019-10-15

Variant appearance in text: PIK3R1: M326I

PubMed Link: 31618934

Variant Present in the following documents:

• Main text
• cancers-11-01564.pdf

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: N/A

PubMed Link: 31537801

Variant Present in the following documents:

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PIK3R1: 978G>A; Met326Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs3730089

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Network Pharmacology Databases for Traditional Chinese Medicine: Review and Assessment.

Frontiers In Pharmacology

Zhang, Runzhi R; Zhu, Xue X; Bai, Hong H; Ning, Kang K

Publication Date: 2019

Variant appearance in text: PIK3R1: Met326Ile

PubMed Link: 30846939

Variant Present in the following documents:

• fphar-10-00123.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3730089

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: PIK3R1: 978G>A; Met326Ile

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: PIK3R1: 978G>A; M326I; rs3730089

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: PIK3R1: 978G>A; Met326Ile; rs3730089

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s8.xls, sheet 4

View BVdb publication page

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Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer

Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E

Publication Date: 2018-06

Variant appearance in text: PIK3R1: M326I

PubMed Link: 29872146

Variant Present in the following documents:

• 41416_2018_89_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Nature Communications

Chen, Li L; Yang, Liu L; Yao, Ling L; Kuang, Xia-Ying XY; Zuo, Wen-Jia WJ; Li, Shan S; Qiao, Feng F; Liu, Yi-Rong YR; Cao, Zhi-Gang ZG; Zhou, Shu-Ling SL; Zhou, Xiao-Yan XY; Yang, Wen-Tao WT; Shi, Jin-Xiu JX; Huang, Wei W; Hu, Xin X; Shao, Zhi-Ming ZM

Publication Date: 2018-04-10

Variant appearance in text: PIK3R1: M326I

PubMed Link: 29636477

Variant Present in the following documents:

• 41467_2018_3867_MOESM1_ESM.pdf
• 41467_2018_Article_3867.pdf

View BVdb publication page

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: PIK3R1: 978G>A; Met326Ile; rs3730089

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 4
• 41467_2017_2688_MOESM14_ESM.xls, sheet 3
• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 5
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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Spatial Tissue Proteomics Quantifies Inter- and Intratumor Heterogeneity in Hepatocellular Carcinoma (HCC).

Molecular & Cellular Proteomics : Mcp

Buczak, Katarzyna K; Ori, Alessandro A; Kirkpatrick, Joanna M JM; Holzer, Kerstin K; Dauch, Daniel D; Roessler, Stephanie S; Endris, Volker V; Lasitschka, Felix F; Parca, Luca L; Schmidt, Alexander A; Zender, Lars L; Schirmacher, Peter P; Krijgsveld, Jeroen J; Singer, Stephan S; Beck, Martin M

Publication Date: 2018-04

Variant appearance in text: PIK3R1: Met326Ile; rs3730089

PubMed Link: 29363612

Variant Present in the following documents:

• supp_RA117.000189_4790_2_supp_58832_p2t92h.xlsx, sheet 1

View BVdb publication page

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: rs3730089

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Functional germline variants as potential co-oncogenes.

Npj Breast Cancer

Agarwal, Divyansh D; Nowak, Christoph C; Zhang, Nancy R NR; Pusztai, Lajos L; Hatzis, Christos C

Publication Date: 2017

Variant appearance in text: rs3730089

PubMed Link: 29177190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients.

Oncotarget

Morgese, Francesca F; Soldato, Davide D; Pagliaretta, Silvia S; Giampieri, Riccardo R; Brancorsini, Donatella D; Torniai, Mariangela M; Rinaldi, Silvia S; Savini, Agnese A; Onofri, Azzurra A; Scarpelli, Marina M; Berardi, Rossana R

Publication Date: 2017-09-29

Variant appearance in text: rs3730089

PubMed Link: 29100280

Variant Present in the following documents:

• Main text
• oncotarget-08-75914.pdf

View BVdb publication page

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PIK3R1Met326Ile germline mutation correlates with cysteine-rich protein 61 expression and poor prognosis in glioblastoma.

Scientific Reports

Otani, Yoshihiro Y; Ishida, Joji J; Kurozumi, Kazuhiko K; Oka, Tetsuo T; Shimizu, Toshihiko T; Tomita, Yusuke Y; Hattori, Yasuhiko Y; Uneda, Atsuhito A; Matsumoto, Yuji Y; Michiue, Hiroyuki H; Tomida, Shuta S; Matsubara, Takehiro T; Ichikawa, Tomotsugu T; Date, Isao I

Publication Date: 2017-08-07

Variant appearance in text: PIK3R1: Met326Ile

PubMed Link: 28785028

Variant Present in the following documents:

• Main text
• 41598_2017_Article_7745.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3730089

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Combined dabrafenib and trametinib treatment in a case of chemotherapy-refractory extrahepatic BRAF V600E mutant cholangiocarcinoma: dramatic clinical and radiological response with a confusing synchronic new liver lesion.

Journal Of Gastrointestinal Oncology

Kocsis, Judit J; Árokszállási, Anita A; András, Csilla C; Balogh, Ingrid I; Béres, Edit E; Déri, Júlia J; Peták, István I; Jánváry, Levente L; Horváth, Zsolt Z

Publication Date: 2017-04

Variant appearance in text: N/A

PubMed Link: 28480077

Variant Present in the following documents:

View BVdb publication page

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LncRNA AK023948 is a positive regulator of AKT.

Nature Communications

Koirala, Pratirodh P; Huang, Jianguo J; Ho, Tsui-Ting TT; Wu, Fangting F; Ding, Xianfeng X; Mo, Yin-Yuan YY

Publication Date: 2017-02-08

Variant appearance in text: N/A

PubMed Link: 28176758

Variant Present in the following documents:

View BVdb publication page

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Insights into the pathological mechanisms of p85α mutations using a yeast-based phosphatidylinositol 3-kinase model.

Bioscience Reports

Oliver, María D MD; Fernández-Acero, Teresa T; Luna, Sandra S; Rodríguez-Escudero, Isabel I; Molina, María M; Pulido, Rafael R; Cid, Víctor J VJ

Publication Date: 2017-04-30

Variant appearance in text: N/A

PubMed Link: 28143957

Variant Present in the following documents:

View BVdb publication page

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Association of polymorphisms in the aldosterone-regulated sodium reabsorption pathway with blood pressure among Hispanics.

Bmc Proceedings

Tayo, Bamidele O BO; Tong, Liping L; Cooper, Richard S RS

Publication Date: 2016

Variant appearance in text: rs3730089

PubMed Link: 27980660

Variant Present in the following documents:

• Main text
• 12919_2016_Article_54.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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IGF1R as a Key Target in High Risk, Metastatic Medulloblastoma.

Scientific Reports

Svalina, Matthew N MN; Kikuchi, Ken K; Abraham, Jinu J; Lal, Sangeet S; Davare, Monika A MA; Settelmeyer, Teagan P TP; Young, Michael C MC; Peckham, Jennifer L JL; Cho, Yoon-Jae YJ; Michalek, Joel E JE; Hernandez, Brian S BS; Berlow, Noah E NE; Jackson, Melanie M; Guillaume, Daniel J DJ; Selden, Nathan R NR; Bigner, Darell D DD; Nazemi, Kellie J KJ; Green, Sarah C SC; Corless, Christopher L CL; Gultekin, Sakir S; Mansoor, Atiya A; Rubin, Brian P BP; Woltjer, Randall R; Keller, Charles C

Publication Date: 2016-06-03

Variant appearance in text: PIK3R1: M326I; rs3730089

PubMed Link: 27255663

Variant Present in the following documents:

• srep27012-s2.xlsx, sheet 2

View BVdb publication page

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