Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

The identification of a causal mutation is essential for molecular diagnosis and clinical management of many genetic disorders. However, even if next-generation exome sequencing has greatly improved the detection of nucleotide changes, the biological interpretation of most exonic variants remains ch...

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Detalles Bibliográficos
Autores principales: Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711968/
https://www.ncbi.nlm.nih.gov/pubmed/26761715
http://dx.doi.org/10.1371/journal.pgen.1005756

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711968/
https://www.ncbi.nlm.nih.gov/pubmed/26761715
http://dx.doi.org/10.1371/journal.pgen.1005756

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