rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.
|
26884814 |
2016 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
|
25569435 |
2015 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
|
27617111 |
2015 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
22q11 deletion syndrome: current perspective.
|
26056486 |
2015 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
|
24998776 |
2014 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
|
23996541 |
2013 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Velo-cardio-facial syndrome: 30 Years of study.
|
18636631 |
2008 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
|
17273972 |
2007 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
|
11748311 |
2001 |
rs1555896474
|
Entrez Id: |
6899 |
Gene Symbol: |
TBX1 |
TBX1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
|
1349199 |
1992 |