Reclassifying CFTR Intragenic Duplication VUS via Breakpoint Analysis and mRNA Sequencing
Publicado por:Unknown
·Publicado em: 2025-12-13
Discussion on how advanced genetic techniques, specifically breakpoint analysis and mRNA sequencing, can aid in reclassifying intragenic duplications in the CFTR gene from Variants of Uncertain Significance (VUS) to likely pathogenic variants. Additionally, exploring the impact of this reclassification on clinical diagnosis and treatment strategies.
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