Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
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.
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Overview publication
| Title | Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees! |
| Date | 2023-11-01 |
| Issue name | ERJ open research |
| Issue number | v9.6 |
| DOI | 10.1183/23120541.00472-2023 |
| PubMed | 37936900 |
| Authors | |
| Read | Read publication |