Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.V230fs
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PUF60

NM_078480.3:p.V230fs

Associated Papers

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

Kursat YD et al.

Molecular Syndromology, 2025

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.

Hoogenboom A et al.

European Journal of Human Genetics : Ejhg, 2024

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