Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.C354S
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TUBB2B

NM_178012.5:p.C354S

Associated Papers

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Cederquist GY et al.

Human Molecular Genetics, 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."