Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.G436C
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TUBA1A

NM_006009.4:p.G436C

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M et al.

Orphanet Journal of Rare Diseases, 2019

30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › allTUBA1A_missense

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

TUBA1A mutation-associated lissencephaly: case report and review of the literature.

Sohal AP et al.

Pediatric Neurology, 2012

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Lecourtois M et al.

Acta Neuropathologica, 2010

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N et al.

Journal of Medical Genetics, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."