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A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG
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Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical

M Tooming1,2, P Mertsina2, T Kahre1,2

  • 1Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Frontiers in Genetics
|January 28, 2025
PubMed
Abstract

Keywords:
PIK3CAPIK3CA somatic mosaic variantsPIK3CA somatic mutationPIK3CA-related overgrowth syndromenext-generation sequencing-based genomic profilingovergrowth syndrome

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