Associated Papers
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
Orrù S et al.
Human Mutation, 1997
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