Publications:

Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: COL4A5: G1119A

PubMed Link: 37214819

Variant Present in the following documents:

• media-2.xlsx, sheet 4

View BVdb publication page

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

Molecular Genetics & Genomic Medicine

Zhao, Xuechao X; Chen, Chen C; Wei, Yanfu Y; Zhao, Ganye G; Liu, Lina L; Wang, Conghui C; Zhang, Junjun J; Kong, Xiangdong X

Publication Date: 2019-06

Variant appearance in text: COL4A5: Gly1119Ala

PubMed Link: 30968591

Variant Present in the following documents:

• Main text
• MGG3-7-e653.pdf

View BVdb publication page