Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E336V
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ATP7A

NM_000052.7:p.E336V

Associated Papers

Changes in body weight and height in survivors of Menkes disease.

Gu YH et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Møller LB et al.

Human Mutation, 2005

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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."