Article
A thorough assessment of benign genetic variability in GRN and MAPT.
Human mutation - 1 Feb 2010
Guerreiro Rita J, Washecka Nicole, Hardy John, Singleton Andrew
Abstract excerpt
Mutations in APP, PSEN1, MAPTand GRNare the most common genetic causes of dementia. The previous miss-assignment of pathogenicity to benign variants in these genes stresses the importance of discerning between disease causing mutations and benign variants with no pathogenic effect on the function of the respective protein. In this study we sequenced GRNand MAPTin 282 samples from the Centre d'Etude du...
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