Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites-Reference-Cited by-同舟云学术

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Published:2017-05 Issue:5 Volume:100 Page:751-765
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lee Melissa,Roos Patrick,Sharma Neeraj,Atalar Melis,Evans Taylor A.,Pellicore Matthew J.,Davis Emily,Lam Anh-Thu N.,Stanley Susan E.,Khalil Sara E.,Solomon George M.,Walker Doug,Raraigh Karen S.,Vecchio-Pagan Briana,Armanios Mary,Cutting Garry R.

Funder

NIH

Cystic Fibrosis Foundation

Cystic Fibrosis Foundation Therapeutics

Gilead Sciences Inc

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference52 articles.

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2. Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention;Molinski;Genet. Med.,2014

3. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat. Rev. Genet.,2002

4. Splicing in disease: disruption of the splicing code and the decoding machinery;Wang;Nat. Rev. Genet.,2007

5. Pre-mRNA splicing in disease and therapeutics;Singh;Trends Mol. Med.,2012

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