Varaico: Literature-Extracted Genetic Variants

Gene:KCNA4
Variant:p.R89Q
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KCNA4

NM_002233.4:p.R89Q

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Kaya N et al.

Journal of Medical Genetics, 2016

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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."