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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBA1B

Variant:p.L318_Y319ins0

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TUBA1B

NM_006082.3:p.L318_Y319ins0

hg38:chr12:49128357 G>GTAC

Associated Papers

Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.

Zrelski MM et al.

The Journal of Investigative Dermatology, 2024

37716646 (PubMed )

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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."