|
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
|
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
|
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 |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
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 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
|
11216666 |
2000 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
|
16207219 |
2005 |
|
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 |
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
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Haplotype and mutation analysis in Greek patients with Wilson disease.
|
9801873 |
1999 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
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
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Haplotype and mutation analysis in Greek patients with Wilson disease.
|
9801873 |
1999 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.
|
11479773 |
2001 |
|
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
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
|
11405812 |
2001 |
|
rs137853284
|
|
Hepatolenticular Degeneration
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
|
9311736 |
1997 |
|
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
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
|
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
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
|
21682854 |
2011 |
|
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
|
A |
0.800 |
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 |