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Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.
ElSharawy A, Hundrieser B, Brosch M, Wittig M, Huse K, Platzer M, Becker A, Simon M, Rosenstiel P, Schreiber S, Krawczak M, Hampe J. ElSharawy A, et al. Among authors: schreiber s. Hum Mutat. 2009 Apr;30(4):625-32. doi: 10.1002/humu.20906. Hum Mutat. 2009. PMID: 19191320
From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
Forster M, Forster P, Elsharawy A, Hemmrich G, Kreck B, Wittig M, Thomsen I, Stade B, Barann M, Ellinghaus D, Petersen BS, May S, Melum E, Schilhabel MB, Keller A, Schreiber S, Rosenstiel P, Franke A. Forster M, et al. Among authors: schreiber s. Nucleic Acids Res. 2013 Jan 7;41(1):e16. doi: 10.1093/nar/gks836. Epub 2012 Sep 10. Nucleic Acids Res. 2013. PMID: 22965131 Free PMC article.
2,757 results