rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs797044860
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
|
26603346 |
2016 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
|
27342041 |
2016 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
|
27311832 |
2016 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
|
26956253 |
2016 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
|
26788536 |
2016 |
rs1555471813
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
|
27165009 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
|
27165009 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
|
26788536 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
|
27342041 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
|
27311832 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
|
26603346 |
2016 |
rs1555473499
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
|
26956253 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
|
27342041 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
|
26956253 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
|
26603346 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
|
27165009 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
|
27311832 |
2016 |
rs199821421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
|
26788536 |
2016 |
rs797044860
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
|
26788536 |
2016 |
rs797044860
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
|
27165009 |
2016 |
rs797044860
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
|
26956253 |
2016 |