Varaico: Literature-Extracted Genetic Variants

Gene:PUS1
Variant:p.N194insFs
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PUS1

NM_025215.6:p.N194insFs

Associated Papers

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.

Ammar M et al.

Annals of Hematology, 2025

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