Varaico: Literature-Extracted Genetic Variants

Gene:PLCB3
Variant:p.G339E
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PLCB3

NM_000932.5:p.G339E

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

35698242 (PubMed )
Supplement: 13073_2022_1064_MOESM1_ESM.pdf
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