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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC154

Variant:p.V156I

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CCDC154

NM_001143980.3:p.V156I

hg38:chr16:1442965 C>T

Associated Papers

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Wagnon JL et al.

Human Mutation, 2018

29726066 (PubMed )

Supplement: HUMU-39-965-s002.xlsx › Variants_after_filtering

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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."