Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.I2749V
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SACS

NM_014363.6:p.I2749V

Associated Papers

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ et al.

Human Mutation, 2020

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
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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."