Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much observations available described the synonymous...

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Detalles Bibliográficos
Autores principales: Jin, Pengzhen, Yan, Kai, Ye, Shaofen, Qian, Yeqing, Wu, Zaigui, Wang, Miaomiao, Xu, Yuqing, Xu, Yanfei, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640503/
https://www.ncbi.nlm.nih.gov/pubmed/34868260
http://dx.doi.org/10.3389/fgene.2021.772958

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640503/
https://www.ncbi.nlm.nih.gov/pubmed/34868260
http://dx.doi.org/10.3389/fgene.2021.772958

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