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Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease

Multiple genome-wide association studies (GWAS) in Parkinson disease (PD) have identified a signal at chromosome 4p16.3; however, the causal variant has not been established for this locus. Deep investigation of the region resulted in one identified variant, the rs34311866 missense SNP (p.M393T) in...

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Detalles Bibliográficos
Autores principales: Jinn, Sarah, Blauwendraat, Cornelis, Toolan, Dawn, Gretzula, Cheryl A, Drolet, Robert E, Smith, Sean, Nalls, Mike A, Marcus, Jacob, Singleton, Andrew B, Stone, David J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859430/
https://www.ncbi.nlm.nih.gov/pubmed/31261387
http://dx.doi.org/10.1093/hmg/ddz136