A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1840
Abstract: BACKGROUND Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low-level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have… read more here.
Keywords: snptic exons; splice; phenotype correlations; snp ... See more keywords
RNA targets of TDP-43: Which one is more important in neurodegeneration?
Sign Up to like & getrecommendations! Published in 2022 at "Translational Neurodegeneration"
DOI: 10.1186/s40035-021-00268-9
Abstract: © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you… read more here.
Keywords: cryptic exons; article; tdp; disease ... See more keywords