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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PUF60

Variant:p.Q212_I214delFs

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PUF60

NM_078480.3:p.Q212_I214delFs

hg38:chr8:143818038 ATGGGC>A

Associated Papers

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

Kursat YD et al.

Molecular Syndromology, 2025

40881056 (PubMed )

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

Baum E et al.

International Journal of Molecular Sciences, 2024

38396730 (PubMed )

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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."