Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.F267L
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TUBA1A

NM_006009.4:p.F267L

Associated Papers

Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel <italic>TUBA1A</italic> Variant.

Bornstein E et al.

Fetal Diagnosis and Therapy, 2025

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
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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."