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,...

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Detalles Bibliográficos
Autores principales: Bychkov, Igor, Galushkin, Artur, Filatova, Alexandra, Nekrasov, Andrey, Kurkina, Marina, Baydakova, Galina, Ilyushkina, Alexandra, Skoblov, Mikhail, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

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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