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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHX40

Variant:p.R581R

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DHX40

NM_024612.5:p.R581R

hg38:chr17:59599420 G>A

Associated Papers

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A et al.

Developmental Cell, 2001

11709191 (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."