PMID: 32117450

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type.

Frontiers in genetics

Wang, Cong C, Liang, Shenghui S, Xing, Shijia S, Xu, Ke K, Xiao, Huijie H, Deng, Haiyue H, Wang, Xiaoyuan X, Chen, Liangyi L, Ding, Jie J, Wang, Fang F

2020

2 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
X-107929342-G-T	COL4A5	c.4298G>T	p.G1433V	Missense	48/53	-
X-107819166-A-AG	COL4A5	c.576dupG	p.P193Afs*23	Frameshift	10/53	-