Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.K2958R
Back to variants list

SACS

NM_014363.6:p.K2958R

Associated Papers

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

Romano A et al.

Human Mutation, 2013

23280630 (PubMed )
Supplement: humu0034-0525-SD1.pdf
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."