Varaico: Literature-Extracted Genetic Variants

Gene:UNC80
Variant:p.Q2686_A2687Splc
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UNC80

NM_032504.2:p.Q2686_A2687Splc

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

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC et al.

Human Genetics, 2018

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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."