Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.H141Q
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KCNK3

NM_002246.3:p.H141Q

Associated Papers

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Sörmann J et al.

Nature Genetics, 2022

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