Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.S637*
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ATP7A

NM_000052.7:p.S637*

Associated Papers

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

Ronce N et al.

American Journal of Human Genetics, 1997

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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."