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: rs2295465

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.

Journal Of Medical Genetics

Pelttari, Liisa M LM; Kiiski, Johanna J; Nurminen, Riikka R; Kallioniemi, Anne A; Schleutker, Johanna J; Gylfe, Alexandra A; Aaltonen, Lauri A LA; Leminen, Arto A; Heikkilä, Päivi P; Blomqvist, Carl C; Bützow, Ralf R; Aittomäki, Kristiina K; Nevanlinna, Heli H

Publication Date: 2012-07

Variant appearance in text: rs2295465

PubMed Link: 22652533

Variant Present in the following documents:

• Main text

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