rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs746485916
|
|
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
|
|
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
|
|
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
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
|
15024742 |
2004 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs746485916
|
|
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
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
|
20517649 |
2010 |
rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations.
|
18855987 |
2008 |
rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
|
9671269 |
1998 |
rs746485916
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.
|
15205742 |
2004 |
rs746485916
|
|
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
|
|
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
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
rs746485916
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs746485916
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |