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Article

A Novel FLCN c.1489_1490delTG Mutation that Escapes the Nonsense-Mediated Decay System.

Annals of clinical and laboratory science - 1 Sept 2016

Park Yong-Jin, Lee Seog-Ki, Kang Seong-Ho, Jang Sook-Jin, Moon Dae-Soo, Park Geon

Abstract excerpt

A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27650627

Genes

FLCN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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