rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
|
28212618 |
2017 |
rs60431989
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs60431989
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
|
20333758 |
2010 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
|
15523622 |
2004 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Haplotype and mutation analysis in Greek patients with Wilson disease.
|
9801873 |
1999 |
rs60431989
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In conclusion, we identified three novel mutations and Ile1148Thr as another hotspot mutation in WD patients from Southern China.
|
25089800 |
2014 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
rs60431989
|
|
G |
0.810 |
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 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
|
18034201 |
2008 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
|
18483695 |
2008 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
|
23843956 |
2013 |
rs60431989
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old.
|
27398169 |
2016 |
rs60431989
|
|
|
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 |
rs60431989
|
|
G |
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 |