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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254852/
https://www.ncbi.nlm.nih.gov/pubmed/32202296
http://dx.doi.org/10.1093/hmg/ddaa047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254852/
https://www.ncbi.nlm.nih.gov/pubmed/32202296
http://dx.doi.org/10.1093/hmg/ddaa047

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