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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KPTN

Variant:p.V244insFs

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KPTN

NM_007059.4:p.V244insFs

hg38:chr19:47479918 G>GA

Associated Papers

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

Baple EL et al.

American Journal of Human Genetics, 2014

24239382 (PubMed )

Supplement: mmc1.pdf

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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."