|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
|
27122662 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Mutational analysis of ATP7B in Chinese Wilson disease patients.
|
27398169 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
[Complexity of the diagnosis of Wilson disease in clinical practice: our experience in 15 patients].
|
24720933 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
|
26799313 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
[Mutation analysis of 35 Wilson's disease pedigrees].
|
26829729 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Pseudo-dominant inheritance in Wilson's disease.
|
26466587 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
|
26799313 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.
|
26819605 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
|
27122662 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
|
27992490 |
2016 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson's disease.
|
25704483 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
CHIPS for genetic testing to improve a regional clinical genetic service.
|
25046119 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Our study extends the mutation spectrum of ATP7B and analyzes the relationship between mutations in the ATP7B gene and clinical findings of WD.
|
25704634 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
|
26782526 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
|
25497208 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
|
25497208 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Wilson disease with hepatic presentation in an eight-month-old boy.
|
26269689 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
|
25376582 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
GESPA: classifying nsSNPs to predict disease association.
|
26206375 |
2015 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |