Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.R2K
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TUBB

NM_178014.4:p.R2K

Associated Papers

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

Defining the phenotypical spectrum associated with variants in TUBB2A.

Brock S et al.

Journal of Medical Genetics, 2021

Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.

Wang AC et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018

Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest.

Huang L et al.

Reproductive Biomedicine Online, 2017

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y et al.

Human Genome Variation, 2017

28791129 (PubMed )
Supplement: hgv201735-s2.pdf

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.

Feng R et al.

The New England Journal of Medicine, 2016

A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers.

Gelain ME et al.

Veterinary Clinical Pathology, 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM et al.

Brain : a Journal of Neurology, 2014

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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."