|
rs137853284
|
|
Hepatolenticular Degeneration
|
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 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
|
23333878 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Wilson disease in offspring of affected patients: report of four French families.
|
23567103 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
|
23333878 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
|
23333878 |
2013 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
|
22677543 |
2012 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
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 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
|
20958917 |
2011 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
|
21682854 |
2011 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
|
21682854 |
2011 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
|
21682854 |
2011 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Revised King's College score for liver transplantation in adult patients with Wilson's disease.
|
17154398 |
2007 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients.
|
17160357 |
2007 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients.
|
17160357 |
2007 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
|
17272994 |
2007 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |