Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.Y483S
Back to variants list

F5

NM_000130.5:p.Y483S

Associated Papers

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.

Han J et al.

Bmc Ophthalmology, 2022

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."