Varaico: Literature-Extracted Genetic Variants

Gene:TUBA8
Variant:p.D218Y
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TUBA8

NM_018943.3:p.D218Y

Associated Papers

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Kumar RA et al.

Human Molecular Genetics, 2010

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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."