Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.L1006P
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ATP7A

NM_000052.7:p.L1006P

Associated Papers

ATP7A-related copper transport diseases-emerging concepts and future trends.

Kaler SG

Nature Reviews. Neurology, 2011

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

Møller LB et al.

Human Mutation, 2005

Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.

Voskoboinik I et al.

Journal of Bioenergetics and Biomembranes, 2002

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Tümer Z et al.

Advances in Experimental Medicine and Biology, 1999

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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."