Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.A229A
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KCNJ2

NM_000891.3:p.A229A

Associated Papers

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Nishimura M et al.

Bmc Medical Genetics, 2017

28595573 (PubMed )
Supplement: 12881_2017_430_MOESM1_ESM.xlsx › Sheet1
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