Hereditary cancer genes are highly susceptible to splicing mutations

Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5′ and 3′ splice sites. However, splicing mutations present in exons and deeper intronic positions are...

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Bibliographic Details
Published in:PLoS Genet
Main Authors: Rhine, Christy L., Cygan, Kamil J., Soemedi, Rachel, Maguire, Samantha, Murray, Michael F., Monaghan, Sean F., Fairbrother, William G.
Format: Artigo
Language:Inglês
Published: Public Library of Science 2018
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5854443/
https://ncbi.nlm.nih.gov/pubmed/29505604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007231
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