|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
rs756029120
|
|
|
0.800 |
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 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
|
23275100 |
2013 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Sequence variation database for the Wilson disease copper transporter, ATP7B.
|
17680703 |
2007 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification and analysis of mutations of the Wilson disease gene in Chinese population.
|
11775208 |
2000 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
|
23843956 |
2013 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
|
11405812 |
2001 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
|
18034201 |
2008 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Wilson disease in the South chinese han population.
|
24718822 |
2014 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
|
14986826 |
2003 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
|
20333758 |
2010 |
|
rs756029120
|
|
T |
0.800 |
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 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.
|
17317524 |
2007 |