Contributions of rare and common variation to early-onset and atypical dementia risk.
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ABSTRACT:
SUBMITTER: Wright CA
PROVIDER: S-EPMC9934786 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Publications
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright Carter A CA Taylor Jared W JW Cochran Meagan M Lawlor James M J JMJ Moyers Belle A BA Amaral Michelle D MD Bonnstetter Zachary T ZT Carter Princess P Solomon Veronika V Myers Richard M RM Love Marissa Natelson MN Geldmacher David S DS Cooper Sara J SJ Roberson Erik D ED Cochran J Nicholas JN
medRxiv : the preprint server for health sciences 20230208
We collected and analyzed genomic sequencing data from individuals with clinician- diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with sixty-eight newly described in this report. Of those sixty-eight, sixty-two patients reported Caucasian, non-Hispanic ethnicity and six reported as African American, non-Hispanic. Fifty-three percent of patients had a returnable variant. Five patients harbored a pathogenic variant as defined by the American College of M ...[more]
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