rs560952220
|
|
|
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 |
rs560952220
|
|
|
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 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
|
24253677 |
2014 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
|
24003324 |
2013 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
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 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
|
20333758 |
2010 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
|
17823867 |
2007 |
rs560952220
|
|
|
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 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In conclusion, the data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous.
|
17160357 |
2007 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients.
|
17160357 |
2007 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
|
12885331 |
2003 |
rs560952220
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
rs560952220
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Molecular diagnosis of Wilson disease.
|
11243728 |
2001 |