Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D829_I830insFs
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ATP7B

NM_000053.4:p.D829_I830insFs

Associated Papers

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.

Chen F et al.

Npj Digital Medicine, 2024

39572625 (PubMed )
Supplement: 41746_2024_1331_MOESM2_ESM.xlsx › Supplementary_Data_6
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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."