Associated Papers
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
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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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
KMD: Korean Mutation Database for genes related to diseases.
Park MH et al.
Human Mutation, 2012
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Park S et al.
Human Mutation, 2007
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