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Article

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015

Bonini Jennifer, Varilh Jessica, Raynal Caroline, Thèze Corinne, Beyne Emmanuelle, Audrezet Marie-Pierre, Ferec Claude, Bienvenu Thierry, Girodon Emmanuelle, Tuffery-Giraud Sylvie, Des Georges Marie, Claustres Mireille, Taulan-Cadars Magali

Abstract excerpt

PURPOSE: Although 97-99% of CFTR mutations have been identified, great efforts must be made to detect yet-unidentified mutations. METHODS: We developed a small-scale next-generation sequencing approach for reliably and quickly scanning the entire gene, including noncoding regions, to identify new...

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Source

Identifiers

PMID: 25569440
DOI: 10.1038/gim.2014.194

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25569440-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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