Associated Papers
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
36635046 (PubMed )
Supplement: LSA-2022-01673_TableS2.xlsx › Sheet1
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Aggarwal A et al.
Annals of Human Genetics, 2013
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Gupta A et al.
Cellular and Molecular Neurobiology, 2007
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