rs121907994
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B in Chinese Wilson disease patients.
|
27398169 |
2016 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Diverse functional properties of Wilson disease ATP7B variants.
|
22240481 |
2012 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.
|
22735241 |
2012 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
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 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
|
21645214 |
2011 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
|
21707886 |
2011 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.
|
19419418 |
2009 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
rs121907994
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of ATP7B gene demonstrated that she was homozygous for Ala-874Val mutation, one of the three common mutations in Korean patients with WD.
|
18156766 |
2006 |
rs121907994
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).
|
12544487 |
2003 |