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Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of various antisense-based splice-modulating approaches,...
Autores principales: | Bychkov, Igor, Galushkin, Artur, Filatova, Alexandra, Nekrasov, Andrey, Kurkina, Marina, Baydakova, Galina, Ilyushkina, Alexandra, Skoblov, Mikhail, Zakharova, Ekaterina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073151/ https://www.ncbi.nlm.nih.gov/pubmed/33923806 http://dx.doi.org/10.3390/ijms22084154 |
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