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Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Ciliary Defects and Hyperammoniemia as Possible Causes of Dementia Not Classified as Alzheimer’s Disease or Frontomteporal Dementia

2024-03-14

Abstract excerpt

The genetic bases of Alzheimer's disease (AD) and frontotemporal dementia (FTD) have been comprehensively studied, which is not the case for atypical cases not classified into these diagnoses. In the present study, we aim to contribute to the molecular understanding of the development of non-AD and non-FTD dementia by surveying rare pathogenic variants. The analysis was performed on 91 patients, the DNA samples of...

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Literature Corpus work: e3659de0-8fb7-5762-8640-ac23ec5bd13d
DOI: 10.20944/preprints202403.0851.v1

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Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Ciliary Defects and Hyperammoniemia as Possible Causes of Dementia Not Classified as Alzheimer’s Disease or Frontomteporal DementiaDOI 10.20944/preprints202403.0851.v1Read

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