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: rs6084305

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs6084305

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Genome-wide linkage and regional association study of blood pressure response to the cold pressor test in Han Chinese: the genetic epidemiology network of salt sensitivity study.

Circulation. Cardiovascular Genetics

Yang, Xueli X; Gu, Dongfeng D; He, Jiang J; Hixson, James E JE; Rao, Dabeeru C DC; Lu, Fanghong F; Mu, Jianjun J; Jaquish, Cashell E CE; Chen, Jing J; Huang, Jianfeng J; Shimmin, Lawrence C LC; Rice, Treva K TK; Chen, Jichun J; Wu, Xigui X; Liu, Depei D; Kelly, Tanika N TN

Publication Date: 2014-08

Variant appearance in text: rs6084305

PubMed Link: 25028485

Variant Present in the following documents:

• Main text

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