|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
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 |
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
|
31783295 |
2019 |
|
rs28942074
|
|
|
0.900 |
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 |
|
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
|
24094725 |
2014 |
|
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
|
8782057 |
1996 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations.
|
27706781 |
2016 |