Evaluating the causality of novel sequence variants in the prion protein gene by example

The estimation of pathogenicity and penetrance of novel prion protein gene (PRNP) variants presents significant challenges, particularly in the absence of family history, which precludes the application of Mendelian segregation. Moreover, the ambiguities of prion disease pathophysiology renders conv...

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Publicat a:Neurobiol Aging
Autors principals: Mok, Tze How, Koriath, Carolin, Jaunmuktane, Zane, Campbell, Tracy, Joiner, Susan, Wadsworth, Jonathan D.F., Hosszu, Laszlo L.P., Brandner, Sebastian, Parvez, Ambereen, Truelsen, Thomas Clement, Lund, Eva Løbner, Saha, Romi, Collinge, John, Mead, Simon
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175539/
https://ncbi.nlm.nih.gov/pubmed/29861043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2018.05.011
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