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Article

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.

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

Diana Anna, Polizzi Angela Maria, De Luisi Annunziata, Pantaleo Maria Giuseppina, Leonetti Giuseppina, Simonetti Simonetta, Bukvic Nenad, Iacoviello Matteo, Bucci Roberta, Gentile Mattia, Resta Nicoletta

Abstract excerpt

Cystic fibrosis (CF) is the most common severe autosomal recessive genetic disorder among Caucasians. The improvement of genetic techniques has allowed the identification of an increasing number of genetic variants, including large rearrangements such as duplications. We report the first case of a whole CFTR gene duplication in a healthy newborn, who had normal sweat test, also carrying R74W and V855I variants on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38320874
DOI: 10.1016/j.jcf.2024.01.013

Genes

CFTR

Variants

Provenance

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