Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.I498del1
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PUF60

NM_078480.3:p.I498del1

Associated Papers

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Volpi J et al.

European Journal of Human Genetics : Ejhg, 2025

40796658 (PubMed )
Supplement: 41431_2025_1916_MOESM1_ESM.xlsx › S1_SNV_Data

Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report.

Chang L et al.

Medicine, 2024

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