Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1031I
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ATP7B

NM_000053.4:p.T1031I

Associated Papers

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.

García-Villarreal L et al.

Journal of Gastroenterology, 2021

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

Duc HH et al.

European Journal of Human Genetics : Ejhg, 0

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