Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: CFTR: V470M

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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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: CFTR: V470M; rs213950

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CFTR: 1408G>A; Val470Met

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: CFTR: V470M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CFTR: V470M

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia.

Journal Of Medicine And Life

Jafari, Leyla L; Safinejad, Kyumars K; Nasiri, Mahboobeh M; Heidari, Mansour M; Houshmand, Massoud M

Publication Date: 2022-04

Variant appearance in text: CFTR: 1408G>A; Val470Met

PubMed Link: 35646184

Variant Present in the following documents:

• Main text
• JMedLife-15-547.pdf

View BVdb publication page

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The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

International Journal Of Molecular Sciences

Sondo, Elvira E; Cresta, Federico F; Pastorino, Cristina C; Tomati, Valeria V; Capurro, Valeria V; Pesce, Emanuela E; Lena, Mariateresa M; Iacomino, Michele M; Baffico, Ave Maria AM; Coviello, Domenico D; Bandiera, Tiziano T; Zara, Federico F; Galietta, Luis J V LJV; Bocciardi, Renata R; Castellani, Carlo C; Pedemonte, Nicoletta N

Publication Date: 2022-03-15

Variant appearance in text: CFTR: V470M

PubMed Link: 35328596

Variant Present in the following documents:

• ijms-23-03175.pdf

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 35313924

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2279.pdf

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: CFTR: 1408G>A; Val470Met; rs213950

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: CFTR: 1408G>A; Val470Met; rs213950

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: CFTR: V470M

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs213950

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kwon, Chae Hwa CH; Jang, Min Hee MH; Kim, Jeong Mi JM; Kim, Eun Heui EH; Jeon, Yun Kyung YK; Kim, Sang Soo SS; Choi, Kyung-Un KU; Kim, In Joo IJ; Park, Meeyoung M; Kim, Bo Hyun BH

Publication Date: 2021-10

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 34731936

Variant Present in the following documents:

• Main text
• enm-2021-1132.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1408G>A

PubMed Link: 34557648

Variant Present in the following documents:

• Main text

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1408G>A

PubMed Link: 34557648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs213950

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Frontiers In Genetics

Yang, Binyi B; Lei, Cheng C; Yang, Danhui D; Tan, Zhiping Z; Guo, Ting T; Luo, Hong H

Publication Date: 2021

Variant appearance in text: CFTR: 1408G>A

PubMed Link: 34276759

Variant Present in the following documents:

• Main text
• fgene-12-631221.pdf

View BVdb publication page

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WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Human Molecular Genetics

Aavikko, Mervi M; Kaasinen, Eevi E; Andersson, Noora N; Pentinmikko, Nalle N; Sulo, Päivi P; Donner, Iikki I; Pihlajamaa, Päivi P; Kuosmanen, Anna A; Bramante, Simona S; Katainen, Riku R; Sipilä, Lauri J LJ; Martin, Samantha S; Arola, Johanna J; Carpén, Olli O; Heiskanen, Ilkka I; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Ristimäki, Ari A; Lehti, Kaisa K; Gucciardo, Erika E; Katajisto, Pekka P; Schalin-Jäntti, Camilla C; Vahteristo, Pia P; Aaltonen, Lauri A LA

Publication Date: 2021-11-30

Variant appearance in text: rs213950

PubMed Link: 34274970

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.

Physiological Reports

Walton, Nathan I NI; Zhang, Xijun X; Soltis, Anthony R AR; Starr, Joshua J; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Conrad, Douglas D; Pollard, Harvey B HB

Publication Date: 2021-06

Variant appearance in text: rs213950

PubMed Link: 34086412

Variant Present in the following documents:

• Main text
• PHY2-9-e14886.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Frontiers In Pharmacology

Ensinck, Marjolein M; Mottais, Angélique A; Detry, Claire C; Leal, Teresinha T; Carlon, Marianne S MS

Publication Date: 2021

Variant appearance in text: CFTR: V470M

PubMed Link: 33986686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: CFTR: 1408G>A; Val470Met; rs213950

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CFTR: Val470Met; rs213950

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: CFTR: 1408G>A; Val470Met

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 6

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: V470M

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs213950

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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The odorant receptor OR2W3 on airway smooth muscle evokes bronchodilation via a cooperative chemosensory tradeoff between TMEM16A and CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Huang, Jessie J; Lam, Hong H; Koziol-White, Cynthia C; Limjunyawong, Nathachit N; Kim, Donghwa D; Kim, Nicholas N; Karmacharya, Nikhil N; Rajkumar, Premraj P; Firer, Danielle D; Dalesio, Nicholas M NM; Jude, Joseph J; Kurten, Richard C RC; Pluznick, Jennifer L JL; Deshpande, Deepak A DA; Penn, Raymond B RB; Liggett, Stephen B SB; Panettieri, Reynold A RA; Dong, Xinzhong X; An, Steven S SS

Publication Date: 2020-11-10

Variant appearance in text: CFTR: V470M

PubMed Link: 33097666

Variant Present in the following documents:

• pnas.2003111117.sapp.pdf

View BVdb publication page

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Genetic Variants, Fat Malabsorption, and Ancestral Background in a Small Chronic Pancreatitis Cohort.

Pancreas

Brownell, Jefferson N JN; Haupt, Mark M; Orlova, Ekaterina E; Schall, Joan I JI; Stallings, Virginia A VA

Publication Date: 2020-09

Variant appearance in text: CFTR: 1408G>A

PubMed Link: 32833953

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.

Annals Of Saudi Medicine

AlMaghamsi, Talal T; Iqbal, Naeem N; Al-Esaei, Nabil Abdullrahman NA; Mohammed, Muhsina M; Eddin, Kamel Zein KZ; Ghurab, Fatima F; Moghrabi, Nabil N; Heaphy, Emily E; Junaid, Islam I

Publication Date: 2020

Variant appearance in text: CFTR: 1408G>A; Val470Met; rs213950

PubMed Link: 32757986

Variant Present in the following documents:

• Main text
• 0256-4947.2020.321.pdf

View BVdb publication page

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Ivacaftor Reverses Airway Mucus Abnormalities in a Rat Model Harboring a Humanized G551D-CFTR.

American Journal Of Respiratory And Critical Care Medicine

Birket, Susan E SE; Davis, Joy M JM; Fernandez-Petty, Courtney M CM; Henderson, Alexander G AG; Oden, Ashley M AM; Tang, LiPing L; Wen, Hui H; Hong, Jeong J; Fu, Lianwu L; Chambers, Andre A; Fields, Alvin A; Zhao, Gojun G; Tearney, Guillermo J GJ; Sorscher, Eric J EJ; Rowe, Steven M SM

Publication Date: 2020-11-01

Variant appearance in text: CFTR: V470M

PubMed Link: 32584141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Genetic markers for treatment-related pancreatitis in a cohort of Hispanic children with acute lymphoblastic leukemia.

Supportive Care In Cancer : Official Journal Of The Multinational Association Of Supportive Care In Cancer

Grimes, Allison C AC; Chen, Yidong Y; Bansal, Hima H; Aguilar, Christine C; Perez Prado, Luz L; Quezada, Gerardo G; Estrada, Jaime J; Tomlinson, Gail E GE

Publication Date: 2021-02

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 32447501

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs213950

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: 1408G>A

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: CFTR: V470M

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Bmc Pediatrics

Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF

Publication Date: 2020-03-06

Variant appearance in text: rs213950

PubMed Link: 32143663

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2013.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.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: CFTR: V470M

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A

Publication Date: 2020-01

Variant appearance in text: rs213950

PubMed Link: 31828483

Variant Present in the following documents:

• 10815_2019_Article_1635.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 1408G>A; V470M

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: CFTR: 1408G>A; Val470Met; rs213950

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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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CFTR: V470M; rs213950

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1408G>A; V470M

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.

Nature Communications

Petti, Allegra A AA; Williams, Stephen R SR; Miller, Christopher A CA; Fiddes, Ian T IT; Srivatsan, Sridhar N SN; Chen, David Y DY; Fronick, Catrina C CC; Fulton, Robert S RS; Church, Deanna M DM; Ley, Timothy J TJ

Publication Date: 2019-08-14

Variant appearance in text: CFTR: V470M

PubMed Link: 31413257

Variant Present in the following documents:

• 41467_2019_11591_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications

Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T

Publication Date: 2019-08-09

Variant appearance in text: CFTR: 1408G>A; Val470Met; rs213950

PubMed Link: 31399568

Variant Present in the following documents:

• 41467_2019_11496_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research

Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D

Publication Date: 2019-07

Variant appearance in text: rs213950

PubMed Link: 31308818

Variant Present in the following documents:

• Main text

View BVdb publication page

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation

Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T

Publication Date: 2019

Variant appearance in text: CFTR: 1408G>A; V470M; rs213950

PubMed Link: 30992994

Variant Present in the following documents:

• Main text
• 41439_2019_Article_49.pdf

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: CFTR: 1408G>A; Val470Met

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: CFTR: V470M; rs213950

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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