Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.E178*
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ATP7A

NM_000052.7:p.E178*

Associated Papers

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

Menkes disease in affected females: the clinical disease spectrum.

Smpokou P et al.

American Journal of Medical Genetics. Part A, 2015

Clinical expression of Menkes disease in females with normal karyotype.

Møller LB et al.

Orphanet Journal of Rare Diseases, 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."