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Article

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

Journal of human genetics - 1 Jan 2010

Forzan Monica, Salviati Leonardo, Pertegato Vanessa, Casarin Alberto, Bruson Alice, Trevisson Eva, Di Gianantonio Elena, Clementi Maurizio

Abstract excerpt

The 621+3 A>G variant of the CFTR gene was initially detected in four Greek patients with a severe form of cystic fibrosis, and it is reported to impair CFTR mRNA splicing. We present three lines of evidence that argue against the pathogenicity of this variant. First, its allelic frequency in the Italian population was 0.4%. Even considering the lowest value in the confidence interval we would expect 10% of...

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Source

Identifiers

PMID: 19893581
DOI: 10.1038/jhg.2009.115

Genes

CFTR

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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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