Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.A348V
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KCNQ3

NM_004519.4:p.A348V

Associated Papers

Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.

Mkrtchyan L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39671184 (PubMed )
Supplement: pnas.2411182121.sapp.pdf

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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