Associated Papers
PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.
Acikgoz NB et al.
Molecular Syndromology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Zollino M et al.
Molecular Genetics & Genomic Medicine, 2019
Interleukin-31 Polymorphisms and Serum IL-31 Level in Patients with Mastocytosis: Correlation with Clinical Presen-tation and Pruritus.
Lange M et al.
Acta Dermato-venereologica, 2017
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Orloff MS et al.
American Journal of Human Genetics, 2013
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