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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7A

Variant:p.D1305_P1307delFs

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ATP7A

NM_000052.7:p.D1305_P1307delFs

hg38:chrX:78042696 GACTCCCC>G

Associated Papers

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Gerdes AA et al.

Journal of Assisted Reproduction and Genetics, 2023

36995557 (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."