Varaico: Literature-Extracted Genetic Variants

Gene:UNC80
Variant:p.R2842G
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UNC80

NM_032504.2:p.R2842G

Associated Papers

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Obeid T et al.

Metabolic Brain Disease, 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."