Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E210D
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ATP7A

NM_000052.7:p.E210D

Associated Papers

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

Mori-Yoshimura M et al.

Journal of the Neurological Sciences, 2012

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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."