Varaico: Literature-Extracted Genetic Variants

Gene:TUBG1
Variant:p.T274I
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TUBG1

NM_001070.5:p.T274I

Associated Papers

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Urreizti R et al.

American Journal of Medical Genetics. Part A, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Ash AS et al.

Cureus, 2024

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