|
rs756029120
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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 in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs756029120
|
|
T |
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 |
|
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 |
GeneticVariation |
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 |
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
|
18034201 |
2008 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
|
rs756029120
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
|
23843956 |
2013 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
|
23843956 |
2013 |
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Sequence variation database for the Wilson disease copper transporter, ATP7B.
|
17680703 |
2007 |
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
rs756029120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs756029120
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Wilson disease in the South chinese han population.
|
24718822 |
2014 |