Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.A2558V
Back to variants list

SACS

NM_014363.6:p.A2558V

Associated Papers

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Li X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A et al.

Human Mutation, 2013

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].

Anheim M et al.

Revue Neurologique, 2008

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."