Varaico: Literature-Extracted Genetic Variants

Gene:TUBG1
Variant:p.F21L
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TUBG1

NM_001070.5:p.F21L

Associated Papers

Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).

Ash AS et al.

Cureus, 2024

A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.

Shen R et al.

Biomed Research International, 2021

Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.

Yuen YTK et al.

Bmc Medical Genetics, 2019

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock S et al.

European Journal of Human Genetics : Ejhg, 2018

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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."