rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
0.800
GeneticVariation
UNIPROT
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169
2009
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
G
0.800
CausalMutation
CLINVAR
Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma.
18451217
2008
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
0.800
GeneticVariation
UNIPROT
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262
2008
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
G
0.800
CausalMutation
CLINVAR
Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer.
17496923
2007
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
G
0.800
CausalMutation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924
2007
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
G
0.800
CausalMutation
CLINVAR
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260
2007
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
0.800
GeneticVariation
UNIPROT
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
G
0.800
CausalMutation
CLINVAR
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621
2006
rs397507473
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
Cardio-facio-cutaneous syndrome
0.800
GeneticVariation
UNIPROT
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621
2006