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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas

Defective splicing is a common cause of genetic diseases. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations with most mapping to the critical GT or AG nucleotides within the 5’ and 3’ splice sites. However, splicing mutations are underreported and the fraction...

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Publicat a:Hum Genet
Autors principals: Cygan, Kamil J., Soemedi, Rachel, Rhine, Christy L., Profeta, Abraham, Murphy, Eileen L., Murray, Michael F., Fairbrother, William G.
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6699175/
https://ncbi.nlm.nih.gov/pubmed/28780672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1833-4
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