Varaico: Literature-Extracted Genetic Variants

Gene:DHX30
Variant:p.P796L
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DHX30

NM_138615.3:p.P796L

Associated Papers

A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).

Alomaim MM et al.

Cureus, 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."