Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.P356L
Back to variants list

HLCS

NM_001352514.2:p.P356L

Associated Papers

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G et al.

Brain : a Journal of Neurology, 2014

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."