Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.I1316S
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ATP7A

NM_000052.7:p.I1316S

Associated Papers

Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.

Kaler SG et al.

Molecular Genetics and Metabolism, 2026

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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."