Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.P514L
Back to variants list

SPG7

NM_003119.4:p.P514L

Associated Papers

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L et al.

Annals of Neurology, 2020

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."