Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G869V
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ATP7B

NM_000053.4:p.G869V

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

Wilson's disease.

Loudianos G et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2014

High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.

Zappu A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Loudianos G et al.

Human Mutation, 1999

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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."