|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
|
28575107 |
2017 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
|
26925970 |
2016 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
|
24225018 |
2014 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
|
23532519 |
2013 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras.
|
18677112 |
2008 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
"Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."
|
18682685 |
2008 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in hereditary familial retinoblastoma.
|
17096365 |
2007 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity.
|
16449662 |
2006 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
|
15643604 |
2005 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.
|
16269091 |
2005 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
|
12541220 |
2003 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
|
11524739 |
2001 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
|
10486322 |
1999 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
|
9973307 |
1999 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
|
10671068 |
1998 |
|
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.
|
9632788 |
1998 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetics of retinoblastoma: a study.
|
9140452 |
1997 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
|
9311732 |
1997 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.
|
8776589 |
1996 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.
|
8605116 |
1995 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
|
7795591 |
1995 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.
|
7704558 |
1994 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
|
7927327 |
1994 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.
|
8346255 |
1993 |
|
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
|
1352883 |
1992 |