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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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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Cygan, Kamil J., Soemedi, Rachel, Rhine, Christy L., Profeta, Abraham, Murphy, Eileen L., Murray, Michael F., Fairbrother, William G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Acesso em linha: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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