Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.P1001S
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ATP7A

NM_000052.7:p.P1001S

Associated Papers

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Donsante A et al.

American Journal of Medical Genetics. Part A, 2010

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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."