Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.Y172_R173delFs
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KAT6B

NM_012330.4:p.Y172_R173delFs

Associated Papers

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Stanley KJ et al.

European Journal of Human Genetics : Ejhg, 2024

38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › K-II-1
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