Varaico: Literature-Extracted Genetic Variants

Gene:NHSL1
Variant:p.T410P
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NHSL1

NM_001144060.2:p.T410P

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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