Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N1270Y
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ATP7B

NM_000053.4:p.N1270Y

Associated Papers

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.

Koboldt DC et al.

Cold Spring Harbor Molecular Case Studies, 2020

32532881 (PubMed )
Supplement: supp_mcs.a005306_Supplemental_Table1.pdf
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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."