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Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer’s disease

Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products. We developed a splicing decision model to identify actionable loci among common SNPs for gene regulation. The splicing decision...

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Bibliografiset tiedot
Julkaisussa:AMIA Jt Summits Transl Sci Proc
Päätekijät: Lee, Younghee, Han, Seonggyun, Kim, Dongwook, Kim, Dokyoon, Horgousluoglu, Emrin, Risacher, Shannon L., Saykin, Andrew J, Nho, Kwangsik
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Medical Informatics Association 2018
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5961815/
https://ncbi.nlm.nih.gov/pubmed/29888056
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