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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

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https://hal-amu.archives-ouvertes.fr/hal-03429594
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Submitted on : Monday, November 15, 2021 - 5:42:46 PM
Last modification on : Monday, January 10, 2022 - 9:10:06 AM

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Charlotte La Fay, Celia Hoebeke, Marine Juzaud, Anne Spraul, Pauline Heux, et al.. 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. European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104334. ⟨10.1016/j.ejmg.2021.104334⟩. ⟨hal-03429594⟩

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