rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
RUNX2 mutations in cleidocranial dysplasia patients.
|
19744171 |
2010 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
|
16270353 |
2006 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
|
10545612 |
1999 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
|
24984680 |
2014 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
|
12424590 |
2002 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
|
12081718 |
2002 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.
|
20082269 |
2010 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
|
28703881 |
2018 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
|
9207800 |
1997 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
|
10980549 |
2000 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
|
9182765 |
1997 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.
|
28505335 |
2017 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene.
|
28056872 |
2017 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
|
10689183 |
2000 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
|
20648631 |
2010 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
|
10521292 |
1999 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
|
11857736 |
2002 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
BEFREE |
On the basis of the structural analysis, this study further demonstrated that the p.R225Q mutation abolished DNA binding by RUNX2 and its results also suggested that other genetic and/or environmental factors could affect the CCD phenotypes.
|
24634175 |
2014 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
|
28738062 |
2017 |
rs104893991
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
|
12196916 |
2002 |
rs104893991
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|