|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
GESPA: classifying nsSNPs to predict disease association.
|
26206375 |
2015 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content.
|
25516681 |
2014 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
|
24253677 |
2014 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content.
|
25516681 |
2014 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Wilson disease in offspring of affected patients: report of four French families.
|
23567103 |
2013 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
|
22692182 |
2012 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
|
20958917 |
2011 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
|
20082719 |
2010 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs761632029
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
|
15952988 |
2005 |
|
rs761632029
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |