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Article

Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2024

Prior-de Castro Carmen, Martínez Gallego Miguel Ángel, Gómez-González Clara, de Sancho Martín Rubén, Rodríguez-Antolín Carlos, Rodríguez-Jiménez Carmen, Del Pozo Mate Ángela, Zamarrón de Lucas Ester, Ruiz de Valbuena Maiz Marta, de Manuel Gómez Cristina, Alcolea Batres Sergio, Prados Sánchez María Concepción, J Torres Rosa

Abstract excerpt

BACKGROUND: The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated. METHODS: Two variants identified by next-generation sequencing were evaluated. We assayed...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38151412
DOI: 10.1016/j.jcf.2023.12.007

Genes

CFTR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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