Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.G567S
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KCNMA1

NM_001161352.2:p.G567S

Associated Papers

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biophysical Journal, 2024

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller JP et al.

Channels (austin, Tex.), 2021

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