Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.C200R
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TUBA1A

NM_006009.4:p.C200R

Associated Papers

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

Tantry MSA et al.

Molecular Neurobiology, 2023

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Attard TJ et al.

Plos Computational Biology, 2022

36206299 (PubMed )
Supplement: pcbi.1010611.s002.xlsx › gnomAD

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Stutterd CA et al.

Brain Communications, 2021

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