regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

While synonymous single-nucleotide variants (sSNVs) have largely been unstudied, since they do not alter protein sequence, mounting evidence suggests that they may affect RNA conformation, splicing, and the stability of nascent-mRNAs to promote various diseases. Accurately prioritizing deleterious s...

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Podrobná bibliografie
Vydáno v:Hum Genet
Hlavní autoři: Zhang, Xinjun, Li, Meng, Lin, Hai, Rao, Xi, Feng, Weixing, Yang, Yuedong, Mort, Matthew, Cooper, David N., Wang, Yue, Wang, Yadong, Wells, Clark, Zhou, Yaoqi, Liu, Yunlong
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2017
Témata:
Original Investigation
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602096/
https://ncbi.nlm.nih.gov/pubmed/28391525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1783-x
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