
TUBB2A Gene - GeneCards | TBB2A Protein | TBB2A Antibody
2024年12月25日 · TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations …
Tubulinopathies Overview - GeneReviews® - NCBI Bookshelf
2016年3月24日 · Tubulinopathies (or tubulin-related cortical dysgenesis) comprise a wide and overlapping range of brain malformations as well as other clinical features caused by …
Tubulin beta-2A (TUBB2A) - Tubulin Biobank
TUBB2A is a beta-tubulin gene that is active in the brain during both its development and after birth. TUBB2A variants were first reported in children with subtle or undetectable brain …
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: …
TUBB2A- related tubulinopathy (p.Asn247Lys) was first described in a patient with a phenotype of infantile spasms, global developmental delay, and brain malformations including a simplified …
Defining the phenotypical spectrum associated with variants in TUBB2A
The imaging phenotype associated with pathogenic variants in <i>TUBB2A</i> is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations.
Tubulin beta-2A chain - Wikipedia
Tubulin beta-2A chain is a protein that in humans is encoded by the TUBB2A gene. [5][6]
微管蛋白 2A IIa 类(TUBB2A)基因 | MCE
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a …
7280 - Gene ResultTUBB2A tubulin beta 2A class IIa [ (human)]
Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. De novo mutations of TUBB2A cause infantile-onset epilepsy and …
Tubb2a tubulin, beta 2A class IIA [Mus musculus (house mouse)]
2024年12月9日 · Study shows that loss of Tubb2a or Tubb2b does not impair survival but does lead to relatively mild cortical malformation phenotypes. In contrast, loss of Tuba1a is perinatal …
TUBB2A人源基因|TUBB2A基因突变_致病性_靶点-RDDC官网
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. The status, quality, and expansion of the NIH full-length cDNA project: …
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