Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R393R
Back to variants list

OPA1

NM_015560.3:p.R393R

Associated Papers

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Le Roux B et al.

Orphanet Journal of Rare Diseases, 2019

31500643 (PubMed )
Supplement: 13023_2019_1187_MOESM1_ESM.pdf

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Chen Y et al.

Molecular Vision, 2013

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."