rs746485916
|
|
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 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
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 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.
|
25982861 |
2015 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.
|
25982861 |
2015 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.
|
25982861 |
2015 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
|
23333878 |
2013 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
|
22677543 |
2012 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
|
22677543 |
2012 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs746485916
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
|
18203200 |
2008 |
rs746485916
|
|
Hepatolenticular Degeneration
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
|
18203200 |
2008 |