Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.V751L
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ATP7A

NM_000052.7:p.V751L

Associated Papers

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

Tümer Z

Human Mutation, 2013

X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

Poulsen L et al.

Clinical Genetics, 2002

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Gu YH et al.

American Journal of Medical Genetics, 2001

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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."