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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7A

Variant:p.L1004L

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ATP7A

NM_000052.7:p.L1004L

hg38:chrX:78029343 C>T

Associated Papers

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

Tümer Z

Human Mutation, 2013

23281160 (PubMed )

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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."