Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.Y205C
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KCNK9

NM_001282534.2:p.Y205C

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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

Cousin MA et al.

Genome Medicine, 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."