rs121908000
|
|
|
0.820 |
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 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs121908000
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
|
23982005 |
2013 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The patients in Gran Canaria constitute, overall, one of the largest groups of patients with WD with a high incidence of a single mutation, allowing us to define the early clinical symptoms and the evolution of the disease in patients carrying the ATP7B L708P mutant allele, and the study of WD in a genetically homogeneous background.
|
21832955 |
2012 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs121908000
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
|
15024742 |
2004 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
rs121908000
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
In these patients, who constitute one of the largest described cohorts of WD homozygotes, we found a variable clinical presentation of the disease, although the biochemical picture was homogenous and characteristic, thereby confirming that the Leu708Pro change is indeed a mutation associated with WD.
|
11093740 |
2000 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In these patients, who constitute one of the largest described cohorts of WD homozygotes, we found a variable clinical presentation of the disease, although the biochemical picture was homogenous and characteristic, thereby confirming that the Leu708Pro change is indeed a mutation associated with WD.
|
11093740 |
2000 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
rs121908000
|
|
|
0.820 |
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 |