Varaico: Literature-Extracted Genetic Variants

Gene:SYMPK
Variant:p.F19fs
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SYMPK

NM_004819.3:p.F19fs

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
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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."