Associated Papers
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Shah AB et al.
American Journal of Human Genetics, 1997
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