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Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
La Fay C, Hoebeke C, Juzaud M, Spraul A, Heux P, Dubus JC, Hadchouel A, Fabre A. La Fay C, et al. Among authors: heux p. Eur J Med Genet. 2021 Nov;64(11):104334. doi: 10.1016/j.ejmg.2021.104334. Epub 2021 Sep 5. Eur J Med Genet. 2021. PMID: 34496286 Review.