Articles with "snptic exons" as a keyword



Photo by vixxer from unsplash

A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.

Sign Up to like & get
recommendations!
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