|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
|
29706646 |
2018 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
|
24860126 |
2014 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
|
22948023 |
2013 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
|
22264709 |
2012 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
CausalMutation
|
disease |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
|
18728072 |
2008 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
|
18954413 |
2008 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
|
18954413 |
2008 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
|
18669490 |
2008 |
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
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
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
7846 |
| Gene Symbol: |
TUBA1A |
TUBA1A
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|