Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.F149V
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TUBA1A

NM_006009.4:p.F149V

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

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

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Li N et al.

Brain : a Journal of Neurology, 2022

34077496 (PubMed )
Supplement: awab209_supplementary_data.zip › brain-2020-02299-File011.pdf
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