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: rs1018782

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Investigation of base excision repair gene variants in late-onset Alzheimer's disease.

Plos One

Ertuzun, Tugce T; Semerci, Asli A; Cakir, Mehmet Emin ME; Ekmekcioglu, Aysegul A; Gok, Mehmet Oguz MO; Soltys, Daniela T DT; de Souza-Pinto, Nadja C NC; Sezerman, Ugur U; Muftuoglu, Meltem M

Publication Date: 2019

Variant appearance in text: rs1018782

PubMed Link: 31415677

Variant Present in the following documents:

• Main text
• pone.0221362.pdf

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