Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G189_G192ins1
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KCNH2

NM_000238.4:p.G189_G192ins1

Associated Papers

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

Bard AM et al.

American Journal of Medical Genetics. Part A, 2024

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2
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