Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.A1007T
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ATP7A

NM_000052.7:p.A1007T

Associated Papers

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

Tümer Z

Human Mutation, 2013

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."