rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.
|
20082269 |
2010 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
|
20648631 |
2010 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
RUNX2 mutations in cleidocranial dysplasia patients.
|
19744171 |
2010 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
|
16270353 |
2006 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
|
12196916 |
2002 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
|
11857736 |
2002 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
|
12424590 |
2002 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
|
12081718 |
2002 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
|
10689183 |
2000 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
|
10980549 |
2000 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
|
10521292 |
1999 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
|
10545612 |
1999 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
|
9182765 |
1997 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD.
|
9207800 |
1997 |
rs104893990
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD.
|
9207800 |
1997 |
rs104893990
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104893989
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
|
28703881 |
2018 |
rs104893992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
|
28703881 |
2018 |
rs104893993
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
|
28703881 |
2018 |
rs104893995
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
|
28703881 |
2018 |
rs104893989
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.
|
28505335 |
2017 |
rs104893989
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
|
28738062 |
2017 |
rs104893992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
|
28738062 |
2017 |
rs104893992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.
|
28505335 |
2017 |
rs104893993
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
|
28738062 |
2017 |