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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KATNB1

Variant:p.R235Splc

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KATNB1

NM_005886.3:p.R235Splc

hg38:chr16:57752777 G>A

Associated Papers

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K et al.

Neuron, 2014

25521378 (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."