Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.R303C
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KCNK9

NM_001282534.2:p.R303C

Associated Papers

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Cousin MA et al.

Genome Medicine, 2022

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."