Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G795R
Back to variants list

COL4A4

NM_000092.5:p.G795R

Associated Papers

Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease.

Ma D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Huang Y et al.

Renal Failure, 2025

41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1

Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases.

Chang YW et al.

Kidney Medicine, 2024

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.

Gulati A et al.

Kidney International Reports, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."