Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.D506N
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ERF

NM_006494.4:p.D506N

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

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Oliver GR et al.

Plos One, 2019

31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest
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