Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc 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
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma LM et al.
Human Mutation, 2010
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
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