Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12C
Variant:p.G124D
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PPP1R12C

NM_017607.4:p.G124D

Associated Papers

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

Jamee M et al.

Clinical Reviews in Allergy & Immunology, 2020

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Takeda AJ et al.

The Journal of Allergy and Clinical Immunology, 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."