Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.E142*
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PUF60

NM_078480.3:p.E142*

Associated Papers

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

Grimes H et al.

American Journal of Medical Genetics. Part A, 2023

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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."