Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
|
17584854 |
2007 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
|
17584854 |
2007 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
|
18728072 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
|
18669490 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
|
18954413 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
|
18728072 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
|
18669490 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
|
18954413 |
2008 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
|
20466733 |
2010 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
|
20466733 |
2010 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
|
22264709 |
2012 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
|
22264709 |
2012 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
|
23361065 |
2013 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
|
23361065 |
2013 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
|
23528852 |
2014 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
|
24860126 |
2014 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
|
23528852 |
2014 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
|
24860126 |
2014 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
|
25008804 |
2015 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
|
25008804 |
2015 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
Entrez Id: |
7846 |
Gene Symbol: |
TUBA1A |
TUBA1A
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |