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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa

Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM

Publication Date: 2016

Variant appearance in text: rs36211714

PubMed Link: 27841901

Variant Present in the following documents:

• Main text
• cvja-27-152.pdf

View BVdb publication page