Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.K291M
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SACS

NM_014363.6:p.K291M

Associated Papers

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Ménade M et al.

The Journal of Biological Chemistry, 2018

Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression.

Lindley RA et al.

Cancer Medicine, 2016

27485054 (PubMed )
Supplement: CAM4-5-2629-s002.pdf
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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."