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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HUWE1

Variant:p.G4193E

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HUWE1

NM_031407.7:p.G4193E

hg38:chrX:53535455 C>T

Associated Papers

Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.

Dai Y et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026

41664155 (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."