Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.Y1629_S1630delFs
Back to variants list

COL4A3

NM_000091.5:p.Y1629_S1630delFs

Associated Papers

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.

Chen JY et al.

Scientific Reports, 2025

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y et al.

Genes, 2022

36292665 (PubMed )
Supplement: genes-13-01779-s001.zip › Table_S5.xlsx › 145_cases

New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.

García-Aznar JM et al.

Journal of Clinical Medicine, 2022

36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf
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."