Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.P419P
Back to variants list

COL4A1

NM_001845.6:p.P419P

Associated Papers

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA et al.

Molecular Vision, 2011

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."