Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.R4331W
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SACS

NM_014363.6:p.R4331W

Associated Papers

Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.

Galatolo D et al.

Frontiers in Neuroscience, 2024

38911600 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

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

Romano A et al.

Human Mutation, 2013

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Prodi E et al.

European Journal of Neurology, 2013

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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."