Article

Co-occurring Pathogenic Variants in 6q27 Associated with Dementia Spectrum Disorders in a Peruvian Family

2022-11-18

Abstract excerpt

Evidence suggests that there may be racial differences in risk factors associated with the development of Alzheimer’s disease and related dementias (ADRD). We used whole genome sequencing analysis and identified a novel combination of three pathogenic variants in the heterozygous state ( UNC93A rs7739897 and WDR27 rs61740334; rs3800544) in a Peruvian family with a strong clinical history of ADRD. Notably, the comb...

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Literature Corpus work: d2415435-6e34-5a7c-afb6-6df1a3487cd2
DOI: 10.1101/2022.11.17.22282341

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