A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.

doi:10.1038/s41431-024-01772-y

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Article

A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.

European journal of human genetics : EJHG - 1 Nov 2025

Alonso-González Aitana, Véliz-Flores Ibrahim, Tosco-Herrera Eva, González-Barbuzano Silvia, Mendoza-Alvarez Alejandro, Galván-Fernández Helena, Sastre Leandro, Fernández-Varas Beatriz, Corrales Almudena, Rubio-Rodríguez Luis A, Jáspez David, Lorenzo-Salazar José M, Molina-Molina Maria, Rodríguez-de-Castro Felipe, González-Montelongo Rafaela, Flores Carlos

Abstract excerpt

Idiopathic pulmonary fibrosis (IPF) is a progressive, late-onset disease marked by lung scarring and irreversible loss of lung function. Genetic factors significantly contribute to both familial and sporadic cases, yet there are scarce evidence-based studies highlighting the benefits of integrating genetics into the management of IPF patients. In this study, we performed whole-exome sequencing and telomere length...

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PMID: 39748130
DOI: 10.1038/s41431-024-01772-y
PMCID: PMC12583455

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NAF1
RTEL1

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