Varaico: Literature-Extracted Genetic Variants

Gene:KCNN3
Variant:p.A287S
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KCNN3

NM_002249.6:p.A287S

Associated Papers

Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

Esener Z et al.

American Journal of Medical Genetics. Part A, 2025

Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Nam YW et al.

Acta Pharmacologica Sinica, 2023

KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.

Zahra A et al.

Current Neuropharmacology, 2023

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Gripp KW et al.

European Journal of Human Genetics : Ejhg, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."