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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS Genet
Päätekijät: Rhine, Christy L., Cygan, Kamil J., Soemedi, Rachel, Maguire, Samantha, Murray, Michael F., Monaghan, Sean F., Fairbrother, William G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2018
Aiheet:
Linkit: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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