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: rs589809

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

Nuclear genetic regulation of the human mitochondrial transcriptome.

Elife

Ali, Aminah T AT; Boehme, Lena L; Carbajosa, Guillermo G; Seitan, Vlad C VC; Small, Kerrin S KS; Hodgkinson, Alan A

Publication Date: 2019-02-18

Variant appearance in text: rs589809

PubMed Link: 30775970

Variant Present in the following documents:

• Main text
• elife-41927.pdf

View BVdb publication page