Varaico: Literature-Extracted Genetic Variants

Gene:PRKCE
Variant:p.D532A
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PRKCE

NM_005400.3:p.D532A

Associated Papers

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Alcantara D et al.

Human Molecular Genetics, 2017

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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."