rs752850609
|
|
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 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
|
26799313 |
2016 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
|
23789284 |
2013 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.
|
22735241 |
2012 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs752850609
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
|
18371106 |
2008 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
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 |
rs752850609
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Ethnic specific background of mutations in Bulgarian patients with Wilson disease.
|
18286826 |
2007 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
|
17264425 |
2007 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
|
16283883 |
2005 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).
|
12885331 |
2003 |
rs752850609
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
BEFREE |
The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).
|
12885331 |
2003 |
rs752850609
|
|
Hepatolenticular Degeneration
|
T |
0.810 |
CausalMutation
|
CLINVAR |
A study of Wilson disease mutations in Britain.
|
10502777 |
1999 |