rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old.
|
27398169 |
2016 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Wilson disease with hepatic presentation in an eight-month-old boy.
|
26269689 |
2015 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Diverse functional properties of Wilson disease ATP7B variants.
|
22240481 |
2012 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
|
22692182 |
2012 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.
|
20485189 |
2010 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.
|
19419418 |
2009 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
|
18483695 |
2008 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
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 |
rs121907990
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs121907990
|
|
Hepatolenticular Degeneration
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |