rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
|
27982432 |
2017 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of ATP7B in Chinese Wilson disease patients.
|
27398169 |
2016 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
[Mutation analysis of 35 Wilson's disease pedigrees].
|
26829729 |
2016 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11.
|
25988284 |
2016 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
|
24094725 |
2014 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Identification and characterization of a novel splice-site mutation in the Wilson disease gene.
|
25086856 |
2014 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis.
|
24878384 |
2014 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
|
24909901 |
2014 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.
|
24897373 |
2014 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Diverse functional properties of Wilson disease ATP7B variants.
|
22240481 |
2012 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
In women, APOE ε4-positive genotype is associated with earlier onset of WD symptoms, particularly among ATP7B p.H1069Q homozygous patients.
|
22221592 |
2012 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q.
|
22720308 |
2012 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.
|
22286624 |
2011 |
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The arche haplotype of the ATP7B gene in Korean patients with WD may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect.
|
19783880 |
2009 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
|
18652531 |
2008 |
rs76151636
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Late onset Wilson's disease: therapeutic implications.
|
18311837 |
2008 |