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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7A

Variant:p.K203delFs

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ATP7A

NM_000052.7:p.K203delFs

hg38:chrX:77988727 TA>T

Associated Papers

Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.

Møller LB et al.

Clinical Medicine. Pathology, 2008

21876651 (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."