Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E1173G
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ATP7B

NM_000053.4:p.E1173G

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

Luoma LM et al.

Human Mutation, 2010

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 2008

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