Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity

Interpretation of variants of uncertain significance is an actual major challenge. We addressed this question on a set of OPA1 missense variants responsible for variable severity of neurological impairments. We used targeted metabolomics to explore the different signatures of OPA1 variants expressed...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Chao de la Barca, Juan Manuel, Fogazza, Mario, Rugolo, Michela, Chupin, Stéphanie, Del Dotto, Valentina, Ghelli, Anna Maria, Carelli, Valerio, Simard, Gilles, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal, Zanna, Claudia
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254852/
https://ncbi.nlm.nih.gov/pubmed/32202296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa047
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