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: ATG2B: Q1383E

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 11

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: ATG2B: Q1383E; rs3759601

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Intravesical BCG in patients with non-muscle invasive bladder cancer induces trained immunity and decreases respiratory infections.

Journal For Immunotherapy Of Cancer

van Puffelen, Jelmer H JH; Novakovic, Boris B; van Emst, Liesbeth L; Kooper, Denise D; Zuiverloon, Tahlita C M TCM; Oldenhof, Ursula T H UTH; Witjes, J Alfred JA; Galesloot, Tessel E TE; Vrieling, Alina A; Aben, Katja K H KKH; Kiemeney, Lambertus A L M LALM; Oosterwijk, Egbert E; Netea, Mihai G MG; Boormans, Joost L JL; van der Heijden, Antoine G AG; Joosten, Leo A B LAB; Vermeulen, Sita H SH

Publication Date: 2023-01

Variant appearance in text: rs3759601

PubMed Link: 36693678

Variant Present in the following documents:

• Main text
• jitc-2022-005518.pdf

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: ATG2B: Q1383E; rs3759601

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology

Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H

Publication Date: 2022

Variant appearance in text: rs3759601

PubMed Link: 36632298

Variant Present in the following documents:

• Main text
• rpor-27-6-1058.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3759601

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: ATG2B: Q1383E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_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: ATG2B: Q1383E; rs3759601

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variants in autophagy-related gene ATG2B predict the prognosis of colorectal cancer patients receiving chemotherapy.

Frontiers In Oncology

Yu, Ting T; Ben, Shuai S; Ma, Ling L; Jiang, Lu L; Chen, Silu S; Lin, Yu Y; Chen, Tao T; Li, Shuwei S; Zhu, Lingjun L

Publication Date: 2022

Variant appearance in text: rs3759601

PubMed Link: 35992821

Variant Present in the following documents:

• Main text
• fonc-12-876424.pdf

View BVdb publication page

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Molecular Mechanisms of Autophagy in Cancer Development, Progression, and Therapy.

Biomedicines

Vitto, Veronica Angela Maria VAM; Bianchin, Silvia S; Zolondick, Alicia Ann AA; Pellielo, Giulia G; Rimessi, Alessandro A; Chianese, Diego D; Yang, Haining H; Carbone, Michele M; Pinton, Paolo P; Giorgi, Carlotta C; Patergnani, Simone S

Publication Date: 2022-07-05

Variant appearance in text: rs3759601

PubMed Link: 35884904

Variant Present in the following documents:

• Main text
• biomedicines-10-01596.pdf

View BVdb publication page

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A loss-of-function polymorphism in ATG16L1 compromises therapeutic outcome in head and neck carcinoma patients.

Oncoimmunology

Le Naour, Julie J; Sztupinszki, Zsofia Z; Carbonnier, Vincent V; Casiraghi, Odile O; Marty, Virginie V; Galluzzi, Lorenzo L; Szallasi, Zoltan Z; Kroemer, Guido G; Vacchelli, Erika E

Publication Date: 2022

Variant appearance in text: rs3759601

PubMed Link: 35481288

Variant Present in the following documents:

• Main text
• KONI_11_2059878.pdf

View BVdb publication page

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Multivariable prognostic model for heart failure in Chinese Han population-based setting.

Esc Heart Failure

Huang, Man M; Xiao, Lei L; Sun, Yang Y; Hu, Dong D; Chen, Yanghui Y; Wang, Yan Y; Wang, Dao Wen DW

Publication Date: 2022-08

Variant appearance in text: rs3759601

PubMed Link: 35451240

Variant Present in the following documents:

• Main text
• EHF2-9-2388.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ATG2B: Q1383E

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.

Bmc Cancer

Bueno-Martínez, E E; Lara-Almunia, M M; Rodríguez-Arias, C C; Otero-Rodríguez, A A; Garfias-Arjona, S S; González-Sarmiento, R R

Publication Date: 2022-02-05

Variant appearance in text: ATG2B: Gln1383Glu; rs3759601

PubMed Link: 35123435

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9214.pdf

View BVdb publication page

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Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.

Bmc Cancer

Bueno-Martínez, E E; Lara-Almunia, M M; Rodríguez-Arias, C C; Otero-Rodríguez, A A; Garfias-Arjona, S S; González-Sarmiento, R R

Publication Date: 2022-02-05

Variant appearance in text: ATG2B: Gln1383Glu; rs3759601

PubMed Link: 35123435

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9214.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: ATG2B: Q1383E

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

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: ATG2B: Q1383E

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 6

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: ATG2B: 4147C>G; Q1383E; rs3759601

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: ATG2B: Gln1383Glu; rs3759601

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: ATG2B: 4147C>G; Q1383E; rs3759601

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

International Journal Of Molecular Sciences

Tamargo-Gómez, Isaac I; Fernández, Álvaro F ÁF; Mariño, Guillermo G

Publication Date: 2020-11-02

Variant appearance in text: rs3759601

PubMed Link: 33147747

Variant Present in the following documents:

• Main text
• ijms-21-08196.pdf

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: ATG2B: Q1383E; rs3759601

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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: rs3759601

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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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: ATG2B: Q1383E

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_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: ATG2B: Q1383E

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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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: ATG2B: 4147C>G; Gln1383Glu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 6

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: ATG2B: Q1383E; rs3759601

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 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
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The Endless Saga of Monocyte Diversity.

Frontiers In Immunology

Canè, Stefania S; Ugel, Stefano S; Trovato, Rosalinda R; Marigo, Ilaria I; De Sanctis, Francesco F; Sartoris, Silvia S; Bronte, Vincenzo V

Publication Date: 2019

Variant appearance in text: rs3759601

PubMed Link: 31447834

Variant Present in the following documents:

• Main text
• fimmu-10-01786.pdf

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: ATG2B: Q1383E; rs3759601

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: rs3759601

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: ATG2B: Q1383E; rs3759601

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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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ATG2B: Q1383E; rs3759601

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ATG2B: 4147C>G; Gln1383Glu; rs3759601

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Potentially Functional Variants of ATG16L2 Predict Radiation Pneumonitis and Outcomes in Patients with Non-Small Cell Lung Cancer after Definitive Radiotherapy.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Wen, Juyi J; Liu, Hongliang H; Wang, Lili L; Wang, Xiaomeng X; Gu, Ning N; Liu, Zhensheng Z; Xu, Ting T; Gomez, Daniel R DR; Komaki, Ritsuko R; Liao, Zhongxing Z; Wei, Qingyi Q

Publication Date: 2018-05

Variant appearance in text: rs3759601

PubMed Link: 29454863

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Implications of the Autophagy Core Gene Variations in Advanced Lung Adenocarcinoma Treated with Gefitinib.

Scientific Reports

Yuan, Jupeng J; Zhang, Nasha N; Yin, Longbin L; Zhu, Hui H; Zhang, Li L; Zhou, Liqing L; Yang, Ming M

Publication Date: 2017-12-19

Variant appearance in text: rs3759601

PubMed Link: 29259263

Variant Present in the following documents:

• Main text
• 41598_2017_18165_MOESM1_ESM.pdf
• 41598_2017_Article_18165.pdf

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: ATG2B: Q1383E; rs3759601

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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Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma.

Scientific Reports

Fernández-Mateos, Javier J; Seijas-Tamayo, Raquel R; Klain, Juan Carlos Adansa JCA; Borgoñón, Miguel Pastor MP; Pérez-Ruiz, Elisabeth E; Mesía, Ricard R; Del Barco, Elvira E; Coloma, Carmen Salvador CS; Dominguez, Antonio Rueda AR; Daroqui, Javier Caballero JC; Fernández Ruiz, Encarnación E; Cruz-Hernández, Juan Jesús JJ; González-Sarmiento, Rogelio R

Publication Date: 2017-07-31

Variant appearance in text: ATG2B: Q1383E; rs3759601

PubMed Link: 28761177

Variant Present in the following documents:

• Main text
• 41598_2017_Article_7270.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: rs3759601

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Autophagy and urothelial carcinoma of the bladder: A review.

Investigative And Clinical Urology

Chandrasekar, Thenappan T; Evans, Christopher P CP

Publication Date: 2016-06

Variant appearance in text: rs3759601

PubMed Link: 27326411

Variant Present in the following documents:

• Main text
• icu-57-S89.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3759601

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATG2B: Q1383E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Polymorphisms in autophagy genes are associated with paget disease of bone.

Plos One

Usategui-Martín, Ricardo R; García-Aparicio, Judith J; Corral-Gudino, Luis L; Calero-Paniagua, Ismael I; Del Pino-Montes, Javier J; González Sarmiento, Rogelio R

Publication Date: 2015

Variant appearance in text: ATG2B: Q1383E; rs3759601

PubMed Link: 26030385

Variant Present in the following documents:

• Main text
• pone.0128984.pdf

View BVdb publication page

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