Varaico: Literature-Extracted Genetic Variants

Gene:TUBA8
Variant:p.I219T
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TUBA8

NM_018943.3:p.I219T

Associated Papers

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC et al.

American Journal of Human 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."