Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.T142fs
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PSEN2

NM_000447.3:p.T142fs

Associated Papers

Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause.

Yang CA et al.

Neurogenetics, 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."