Associated Papers
Clinical Utility of Whole-Exome Sequencing in a Consanguineous Family with UNC80-related Neurodevelopmental Disorder: A Case Series and Review of the Literature.
Alshabani DM et al.
Cureus, 2025
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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