Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.F3166fs
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SACS

NM_014363.6:p.F3166fs

Associated Papers

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Zeng H et al.

Cytogenetic and Genome Research, 2017

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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."