Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P3313delFs
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SACS

NM_014363.6:p.P3313delFs

Associated Papers

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Machuca C et al.

Stem Cell Research, 2018

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Arellano CM et al.

Stem Cell Research, 2018

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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."