rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
|
26639658 |
2016 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
|
25559402 |
2015 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
|
25482575 |
2015 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
|
25059107 |
2014 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
|
24612975 |
2014 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
|
23378218 |
2013 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
|
23503589 |
2013 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
|
24257358 |
2013 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
|
20829227 |
2010 |
rs1555625571
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
|
20074521 |
2010 |