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
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
Miller JP et al.
Channels (austin, Tex.), 2021
KCNMA1-linked channelopathy.
Bailey CS et al.
The Journal of General Physiology, 2019
31427379 (PubMed )
Supplement: JGP_201912457_sm.pdf
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X et al.
European Journal of Human Genetics : Ejhg, 2018
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