Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P487P
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ATP7B

NM_000053.4:p.P487P

Associated Papers

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H et al.

Plos Genetics, 2018

30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM
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