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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UNC80

Variant:p.F1339delFs

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UNC80

NM_032504.2:p.F1339delFs

hg38:chr2:209880992 CT>C

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

41458659 (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."