Matches in SemOpenAlex for { <https://semopenalex.org/work/W39883492> ?p ?o ?g. }
- W39883492 endingPage "35" @default.
- W39883492 startingPage "17" @default.
- W39883492 abstract "Our knowledge about human genes and the consequences of mutations leading to human genetic diseases has drastically improved over the last few years. It has been recognized that many mutations are indeed pathogenic because they impact the mRNA rather than the protein itself. With our better understanding of the very complex mechanism of splicing, various bioinformatics tools have been developed. They are now frequently used not only to search for sequence motifs corresponding to splicing signals (splice sites, branch points, ESE, and ESS) but also to predict the impact of mutations on these signals. We now need to address the impact of mutations that affect the splicing process, as their consequences could vary from the activation of cryptic signals to the skipping of one or multiple exons. Despite the major developments of the bioinformatics field coupled to experimental data generated on splicing, it is today still not possible to efficiently predict the consequences of mutations impacting splicing signals, especially to predict if they will lead to exon skipping or to cryptic splice site activation." @default.
- W39883492 created "2016-06-24" @default.
- W39883492 creator A5085042865 @default.
- W39883492 creator A5085971338 @default.
- W39883492 date "2012-01-01" @default.
- W39883492 modified "2023-09-27" @default.
- W39883492 title "Bioinformatics and Mutations Leading to Exon Skipping" @default.
- W39883492 cites W1008280890 @default.
- W39883492 cites W1504845338 @default.
- W39883492 cites W1586519274 @default.
- W39883492 cites W1966340852 @default.
- W39883492 cites W1970075197 @default.
- W39883492 cites W1970880469 @default.
- W39883492 cites W1974746092 @default.
- W39883492 cites W1978719997 @default.
- W39883492 cites W1985991078 @default.
- W39883492 cites W1987599856 @default.
- W39883492 cites W1990084717 @default.
- W39883492 cites W1991257654 @default.
- W39883492 cites W1993822994 @default.
- W39883492 cites W1996590031 @default.
- W39883492 cites W1997530797 @default.
- W39883492 cites W1998434274 @default.
- W39883492 cites W1998981064 @default.
- W39883492 cites W2005484266 @default.
- W39883492 cites W2010650881 @default.
- W39883492 cites W2011203975 @default.
- W39883492 cites W2011707922 @default.
- W39883492 cites W2011960556 @default.
- W39883492 cites W2013235753 @default.
- W39883492 cites W2017970994 @default.
- W39883492 cites W2020932961 @default.
- W39883492 cites W2021525576 @default.
- W39883492 cites W2021853034 @default.
- W39883492 cites W2028353722 @default.
- W39883492 cites W2030606891 @default.
- W39883492 cites W2034135794 @default.
- W39883492 cites W2034691490 @default.
- W39883492 cites W2037458235 @default.
- W39883492 cites W2038921819 @default.
- W39883492 cites W2048302511 @default.
- W39883492 cites W2050902903 @default.
- W39883492 cites W2059999068 @default.
- W39883492 cites W2072431523 @default.
- W39883492 cites W2072832813 @default.
- W39883492 cites W2079699077 @default.
- W39883492 cites W2080667183 @default.
- W39883492 cites W2085596403 @default.
- W39883492 cites W2086039439 @default.
- W39883492 cites W2087271445 @default.
- W39883492 cites W2088440342 @default.
- W39883492 cites W2090162836 @default.
- W39883492 cites W2090335524 @default.
- W39883492 cites W2095227542 @default.
- W39883492 cites W2095998476 @default.
- W39883492 cites W2096389590 @default.
- W39883492 cites W2099101325 @default.
- W39883492 cites W2106685977 @default.
- W39883492 cites W2108978314 @default.
- W39883492 cites W2109121759 @default.
- W39883492 cites W2109505509 @default.
- W39883492 cites W2109926420 @default.
- W39883492 cites W2111845714 @default.
- W39883492 cites W2114858580 @default.
- W39883492 cites W2117784725 @default.
- W39883492 cites W2119219430 @default.
- W39883492 cites W2125457772 @default.
- W39883492 cites W2127534226 @default.
- W39883492 cites W2127846999 @default.
- W39883492 cites W2129682060 @default.
- W39883492 cites W2130909228 @default.
- W39883492 cites W2131759817 @default.
- W39883492 cites W2132123037 @default.
- W39883492 cites W2133475258 @default.
- W39883492 cites W2136685735 @default.
- W39883492 cites W2137027832 @default.
- W39883492 cites W2137444695 @default.
- W39883492 cites W2141281090 @default.
- W39883492 cites W2143500395 @default.
- W39883492 cites W2155314987 @default.
- W39883492 cites W2156443053 @default.
- W39883492 cites W2157344394 @default.
- W39883492 cites W2162680872 @default.
- W39883492 cites W2165962052 @default.
- W39883492 cites W2168510967 @default.
- W39883492 cites W2337463877 @default.
- W39883492 cites W2946716739 @default.
- W39883492 cites W4211000692 @default.
- W39883492 doi "https://doi.org/10.1007/978-1-61779-767-5_2" @default.
- W39883492 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22454052" @default.
- W39883492 hasPublicationYear "2012" @default.
- W39883492 type Work @default.
- W39883492 sameAs 39883492 @default.
- W39883492 citedByCount "14" @default.
- W39883492 countsByYear W398834922013 @default.
- W39883492 countsByYear W398834922014 @default.
- W39883492 countsByYear W398834922015 @default.
- W39883492 countsByYear W398834922016 @default.