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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.V3010V

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SACS

NM_014363.6:p.V3010V

hg38:chr13:23334846 A>G

Associated Papers

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q et al.

Journal of Medical Genetics, 2022

34085946 (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."