Associated Papers
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Usta J et al.
Plos One, 2014
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Schushan M et al.
Metallomics : Integrated Biometal Science, 2012
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
Deguti MM et al.
Human Mutation, 2004
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