Varaico: Literature-Extracted Genetic Variants

Gene:PIK3AP1
Variant:p.K638R
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PIK3AP1

NM_152309.3:p.K638R

Associated Papers

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C et al.

The Journal of Experimental Medicine, 2020

32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All

Defining an embryonal rhabdomyosarcoma endotype.

Ricker CA et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."