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Publicly available data provide evidence against NR1H3 R415Q causing multiple sclerosis

It has recently been reported that an NR1H3 missense variant, R415Q, causes a novel familial form of multiple sclerosis (Wang et al., 2016). This claim is at odds with publicly available data from the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org). The allele frequency of R415Q...

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Publicado en:Neuron
Autores principales: Minikel, Eric Vallabh, MacArthur, Daniel G.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123684/
https://ncbi.nlm.nih.gov/pubmed/27764668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2016.09.054
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