Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.R430C
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CASK

NM_001367721.1:p.R430C

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

Identifying pathogenicity of human variants via paralog-based yeast complementation.

Yang F et al.

Plos Genetics, 2017

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

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