Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.L910H
Back to variants list

OPA1

NM_130837.3:p.L910H

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.

La Morgia C et al.

Brain : a Journal of Neurology, 2010

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P et al.

Brain : a Journal of Neurology, 2010

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."