Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.R66P
Back to variants list

COL5A1

NM_000093.5:p.R66P

Associated Papers

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Kiener S et al.

Genes, 2022

35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_1

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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."