Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.Q386H
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KCNMA1

NM_001322838.2:p.Q386H

Associated Papers

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula SK et al.

Jama Neurology, 2023

37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene

Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.

Atli EI et al.

Internal Medicine Journal, 2022

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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."