Publications:

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: rs13337626

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

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Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett's Esophagus.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Dong, Jing J; Levine, David M DM; Buas, Matthew F MF; Zhang, Rui R; Onstad, Lynn L; Fitzgerald, Rebecca C RC; , ; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Lagergren, Jesper J; Hardie, Laura J LJ; Reid, Brian J BJ; Iyer, Prasad G PG; Risch, Harvey A HA; Caldas, Carlos C; Caldas, Isabel I; Pharoah, Paul D PD; Liu, Geoffrey G; Gammon, Marilie D MD; Chow, Wong-Ho WH; Bernstein, Leslie L; Bird, Nigel C NC; Ye, Weimin W; Wu, Anna H AH; Anderson, Lesley A LA; MacGregor, Stuart S; Whiteman, David C DC; Vaughan, Thomas L TL; Thrift, Aaron P AP

Publication Date: 2018-10

Variant appearance in text: rs13337626

PubMed Link: 29551738

Variant Present in the following documents:

• Main text

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Genetic associations with sporadic neuroendocrine tumor risk.

Carcinogenesis

Ter-Minassian, Monica M; Wang, Zhaoxi Z; Asomaning, Kofi K; Wu, Michael C MC; Liu, Chen-Yu CY; Paulus, Jessica K JK; Liu, Geoffrey G; Bradbury, Penelope A PA; Zhai, Rihong R; Su, Li L; Frauenhoffer, Christine S CS; Hooshmand, Susanne M SM; De Vivo, Immaculata I; Lin, Xihong X; Christiani, David C DC; Kulke, Matthew H MH

Publication Date: 2011-08

Variant appearance in text: rs13337626

PubMed Link: 21606320

Variant Present in the following documents:

• Main text

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Genetic variability of the mTOR pathway and prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).

Plos One

Campa, Daniele D; Hüsing, Anika A; Stein, Angelika A; Dostal, Lucie L; Boeing, Heiner H; Pischon, Tobias T; Tjønneland, Anne A; Roswall, Nina N; Overvad, Kim K; Østergaard, Jane Nautrup JN; Rodríguez, Laudina L; Sala, Núria N; Sánchez, Maria-José MJ; Larrañaga, Nerea N; Huerta, José María JM; Barricarte, Aurelio A; Khaw, Kay-Tee KT; Wareham, Nicholas N; Travis, Ruth C RC; Allen, Naomi E NE; Lagiou, Pagona P; Trichopoulou, Antonia A; Trichopoulos, Dimitrios D; Palli, Domenico D; Sieri, Sabina S; Tumino, Rosario R; Sacerdote, Carlotta C; van Kranen, Henk H; Bueno-de-Mesquita, H Bas HB; Hallmans, Göran G; Johansson, Mattias M; Romieu, Isabelle I; Jenab, Mazda M; Cox, David G DG; Siddiq, Afshan A; Riboli, Elio E; Canzian, Federico F; Kaaks, Rudolf R

Publication Date: 2011-02-23

Variant appearance in text: rs13337626

PubMed Link: 21373201

Variant Present in the following documents:

• Main text
• pone.0016914.pdf

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Biallelic TSC gene inactivation in tuberous sclerosis complex.

Neurology

Crino, Peter B PB; Aronica, Eleonora E; Baltuch, Gordon G; Nathanson, Katherine L KL

Publication Date: 2010-05-25

Variant appearance in text: rs13337626

PubMed Link: 20498439

Variant Present in the following documents:

• Main text

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