These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
9. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. Steiner B; Truninger K; Sanz J; Schaller A; Gallati S Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793 [TBL] [Abstract][Full Text] [Related]
10. Analysis of mutations that influence pre-mRNA splicing. Zhang Z; Stamm S Methods Mol Biol; 2011; 703():137-60. PubMed ID: 21125488 [TBL] [Abstract][Full Text] [Related]
11. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Pagenstecher C; Wehner M; Friedl W; Rahner N; Aretz S; Friedrichs N; Sengteller M; Henn W; Buettner R; Propping P; Mangold E Hum Genet; 2006 Mar; 119(1-2):9-22. PubMed ID: 16341550 [TBL] [Abstract][Full Text] [Related]
12. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. Lastella P; Surdo NC; Resta N; Guanti G; Stella A BMC Genomics; 2006 Sep; 7():243. PubMed ID: 16995940 [TBL] [Abstract][Full Text] [Related]
13. Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene. Mascarenhas JB; Tchourbanov AY; Fan H; Danilov SM; Wang T; Garcia JG Am J Respir Cell Mol Biol; 2017 Jan; 56(1):29-37. PubMed ID: 27529643 [TBL] [Abstract][Full Text] [Related]
14. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene. Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018 [TBL] [Abstract][Full Text] [Related]
15. The effect of disease-associated HRPT2 mutations on splicing. Hahn MA; McDonnell J; Marsh DJ J Endocrinol; 2009 Jun; 201(3):387-96. PubMed ID: 19332451 [TBL] [Abstract][Full Text] [Related]
16. Exon identity crisis: disease-causing mutations that disrupt the splicing code. Sterne-Weiler T; Sanford JR Genome Biol; 2014 Jan; 15(1):201. PubMed ID: 24456648 [TBL] [Abstract][Full Text] [Related]