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Article

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Human molecular genetics - 15 Jul 2016

Freudenberg-Hua Yun, Li Wentian, Abhyankar Avinash, Vacic Vladimir, Cortes Vanessa, Ben-Avraham Danny, Koppel Jeremy, Greenwald Blaine, Germer Soren, Darnell Robert B, Barzilai Nir, Freudenberg Jan, Atzmon Gil, Davies Peter

Abstract excerpt

We compared coding region variants of 53 cognitively healthy centenarians and 45 patients with Alzheimer's disease (AD), all of Ashkenazi Jewish (AJ) ancestry. Despite the small sample size, the known AD risk variant APOE4 reached genome-wide significance, indicating the advantage of utilizing 'super-controls'. We restricted our subsequent analysis to rare variants observed at most once in the 1000 Genomes...

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Identifiers

PMID: 27260402
DOI: 10.1093/hmg/ddw150
PMCID: PMC5181592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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