Article

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] 2 in Cystic Fibrosis and Tracing of a Founder Effect in Mexican 3 Families

2024-10-03

Abstract excerpt

Cystic fibrosis (CF) diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved our understanding of the contribution of these complex alleles to the wide spectrum of CF clinical symptoms and to the response to medications. Herein, we studied nine CF patients from six unrelated families carrying the comp...

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Literature Corpus work: eaac1b87-8643-56a8-87f8-658b5ebda4ee
DOI: 10.20944/preprints202410.0256.v1

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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] 2 in Cystic Fibrosis and Tracing of a Founder Effect in Mexican 3 FamiliesDOI 10.20944/preprints202410.0256.v1Read

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