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Article

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Journal of Alzheimer's disease : JAD - 1 Jan 2018

Le Guennec Kilan, Tubeuf Hélène, Hannequin Didier, Wallon David, Quenez Olivier, Rousseau Stéphane, Richard Anne-Claire, Deleuze Jean-François, Boland Anne, Frebourg Thierry, Gaildrat Pascaline, Campion Dominique, Martins Alexandra, Nicolas Gaël

Abstract excerpt

Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer's disease (EOAD). In case control studies performed at the genome-wide level, PTV definition is usually straightforward. Regarding splice site variants, only those affecting canonical sites are typically included. Some other variants, not annotated as PTV, could, however, affect splicing and hence result in a...

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Identifiers

PMID: 29480197
DOI: 10.3233/JAD-170981

Genes

SORL1

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