|
rs750019452
|
|
|
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 |
|
rs750019452
|
|
A |
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 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
|
26483271 |
2016 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
|
24476933 |
2014 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
EGFP tags affect cellular localization of ATP7B mutants.
|
23607698 |
2013 |
|
rs750019452
|
|
A |
0.800 |
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 |
|
rs750019452
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
|
rs750019452
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Sequence variation database for the Wilson disease copper transporter, ATP7B.
|
17680703 |
2007 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs750019452
|
|
A |
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 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
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 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
|
11405812 |
2001 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
|
11405812 |
2001 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification and analysis of mutations of the Wilson disease gene in Chinese population.
|
11775208 |
2000 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Identification and analysis of mutations of the Wilson disease gene in Chinese population.
|
11775208 |
2000 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs750019452
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
|
9829905 |
1998 |
|
rs750019452
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
|
9829905 |
1998 |