Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.Y676fs
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KCNMA1

NM_001161352.2:p.Y676fs

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

The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome.

Soldovieri MV et al.

Acta Physiologica (oxford, England), 2022

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

Miller JP et al.

Channels (austin, Tex.), 2021

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