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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBG1

Variant:p.L321V

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TUBG1

NM_001070.5:p.L321V

hg38:chr17:42614377 C>G

Associated Papers

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin M et al.

Neurogenetics, 2017

27747449 (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."