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Article

Identification of exon skipping events associated with Alzheimer's disease in the human hippocampus.

BMC medical genomics - 31 Jan 2019

Han Seonggyun, Miller Jason E, Byun Seyoun, Kim Dokyoon, Risacher Shannon L, Saykin Andrew J, Lee Younghee, Nho Kwangsik

Abstract excerpt

BACKGROUND: At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer's disease (AD). METHODS: We developed a splicing decision model as a molecular mechanism to identify functional exon skipping events and genetic variation affecting alternative splicing on a...

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Identifiers

PMID: 30704480
DOI: 10.1186/s12920-018-0453-8
PMCID: PMC6357347

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RELN
NOS1

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