Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
Alice CastaldoCeline DelestrainRémi DieslerClaire Merveilleux du VignauxMarion OnneeRenaud TouraineLara ChalabreyssePascale FanenRalph EpaudVincent CottinAlix De BecdelièvrePublished in: ERJ open research (2023)
Even in the absence of liver disease, MARS1 screening should be considered in severe lung fibrosis of young individuals. Interpretation of the genetic variants can evolve with improvement of knowledge (databases, bioinformatic tools) over time. https://bit.ly/45OxF5E.