Publications:

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Frontiers In Genetics

Gao, Min M; Yu, Fengling F; Dong, Rui R; Zhang, Kaihui K; Lv, Yuqiang Y; Ma, Jian J; Wang, Dong D; Zhang, Hongxia H; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: COL4A5: 466G>C; G156R

PubMed Link: 36685964

Variant Present in the following documents:

• Main text
• fgene-13-933636.pdf

View BVdb publication page

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Frontiers In Medicine

Cerkauskaite, Agne A; Savige, Judy J; Janonyte, Karolina K; Jeremiciute, Ieva I; Miglinas, Marius M; Kazenaite, Edita E; Laurinavicius, Arvydas A; Strupaite-Sileikiene, Rasa R; Vainutiene, Vija V; Burnyte, Birute B; Jankauskiene, Augustina A; Rolfs, Arndt A; Bauer, Peter P; Schröder, Sabine S; Cerkauskiene, Rimante R

Publication Date: 2022

Variant appearance in text: COL4A5: 466G>C; Gly156Arg

PubMed Link: 35419377

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fmed-09-859521.pdf

View BVdb publication page