Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.I394fs
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PUF60

NM_078480.3:p.I394fs

Associated Papers

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

Kursat YD et al.

Molecular Syndromology, 2025

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.

Bach MY et al.

American Journal of Medical Genetics. Part A, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."