One-third of the SNV-positive cohort 33% (4/12) had one or more plexiform neurofibroma. Patient 6, identified to have a frameshift variant (c.5267_5268del), had a higher burden of plexiform ...

Abstract Rare and common genetic variants contribute to the risk of atrial fibrillation (AF). Although ion channels were among the first AF candidate genes identified, rare loss-of-function variants ...

Mar. 14, 2025 — Researchers have discovered that cancer cells suppress 'poison exons' -- genetic elements that act as an off switch for protein production -- in a key gene called TRA2 ...

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