Associated Papers
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M et al.
Movement Disorders Clinical Practice, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.pdf
Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene.
Jyoti Saikia B et al.
Stem Cell Research, 2024
Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.
Kumar M et al.
Annals of Neurosciences, 2024
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
Forbes N et al.
Bmc Medical Genetics, 2014
Select a paper to view details