Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A4

Variant:p.P1586_P1587del2

Back to variants list

COL4A4

NM_000092.5:p.P1586_P1587del2

hg38:chr2:227008065 ATGGGGG>A

Associated Papers

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.

Liao Y et al.

Clinical Nephrology, 2021

34448697 (PubMed )

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."