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Article

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

American journal of respiratory cell and molecular biology - 1 Jun 2024

Villeneuve Judith, Tremblay Élody, Gaudreault Nathalie, Saavedra Armero Victoria, Boudreau Dominique K, Li Zhonglin, Renaut Sébastien, Dion Geneviève, Bossé Yohan

Abstract excerpt

The recent European Respiratory Society statement on familial pulmonary fibrosis supports the need for genetic testing in the care of patients and their relatives. However, no solution (i.e., a concrete test) was provided to implement genetic testing in daily practice. Herein, we tabulated and standardized the nomenclature of 128 genetic variants in 20 genes implicated in adult-onset pulmonary fibrosis. The...

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Identifiers

PMID: 38363828
DOI: 10.1165/rcmb.2024-0009MA
PMCID: PMC11160413

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MUC5B

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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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