Varaico: Literature-Extracted Genetic Variants

Gene:UNC80
Variant:p.G2165G
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UNC80

NM_001371986.1:p.G2165G

Associated Papers

Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.

Kelesoglu FM 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."