Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.R1128W
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KCNMA1

NM_002247.4:p.R1128W

Associated Papers

Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.

Keros S et al.

Movement Disorders Clinical Practice, 2022

Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation.

Heim J et al.

Movement Disorders Clinical Practice, 2020

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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."