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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.H716Y

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SACS

NM_014363.6:p.H716Y

hg38:chr13:23353824 G>A

Associated Papers

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z et al.

Plos One, 2017

28362824 (PubMed )

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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."