Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.E205K
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TUBB2A

NM_001069.3:p.E205K

Associated Papers

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Chen B et al.

Human Reproduction (oxford, England), 2017

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R et al.

Developmental Medicine and Child Neurology, 2012

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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."