Varaico: Literature-Extracted Genetic Variants

Gene:TUBG1
Variant:p.R341Q
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TUBG1

NM_001070.5:p.R341Q

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

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Sobering AK et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."