Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.L156P
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KCNA1

NM_000217.3:p.L156P

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s002.xlsx › supplementary_table10_v3.01

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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