Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ4
Variant:p.D241N
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KCNJ4

NM_152868.3:p.D241N

Associated Papers

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I et al.

American Journal of Medical Genetics. Part A, 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."