Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism

Keyphrases

• Clinically Significant 100%
• Disorders of Somatic Mosaicism 100%
• Pathogenic Variants 83%
• Disease Mechanisms 50%
• Disease Severity 16%
• Mammalian Target of Rapamycin (mTOR) 16%
• Next-generation Sequencing 16%
• Large Cohort 16%
• Molecular Diagnostics 16%
• Therapeutic Potential 16%
• Heterogeneous Groups 16%
• Gain-of-function 16%
• Potential Therapeutics 16%
• Disease Potential 16%
• Tissue Type 16%
• RAS-MAPK Pathway 16%
• Disease Groups 16%
• Deep Sequencing 16%
• Loss-of-function Disease 16%
• PIK3CA Gene 16%
• Postzygotic Variants 16%
• Sequencing Assays 16%
• Extremely Rare 16%
• Somatic Variants 16%
• Activating Variant 16%

Biochemistry, Genetics and Molecular Biology

• Mosaicism 100%
• Signal Transduction 16%
• Next Generation Sequencing 16%
• Deep Sequencing 16%
• Protein Kinase B 16%
• Mammalian Target of Rapamycin 16%
• MAPK Signaling 16%