Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R905Q
Back to variants list

OPA1

NM_015560.3:p.R905Q

Associated Papers

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Othman BA et al.

Genes, 2022

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Lee J et al.

Molecular Medicine Reports, 2016

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."