Segregation of a rare <i>TTC3</i> variant in an extended family with late-onset Alzheimer disease

Abstract excerpt

OBJECTIVE: The genetic risk architecture of Alzheimer disease (AD) is complex with single pathogenic mutations leading to early-onset AD, while both rare and common genetic susceptibility variants contribute to the more widespread late-onset AD (LOAD); we sought to discover novel genes contributing to LOAD risk. METHODS: Whole-exome sequencing and genome-wide genotyping were performed on 11 affected individuals...

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