Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.Q222L
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TUBB

NM_001293213.2:p.Q222L

Associated Papers

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML et al.

Clinical Genetics, 2018

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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."