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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
General Article
Acesso em linha: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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