Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome

BACKGROUND: Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing analysis is critical to determine the functional signi...

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Detalles Bibliográficos
Autores principales: Fei, Hongjun, Wu, Yi, Wang, Yanlin, Zhang, Junyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922956/
https://www.ncbi.nlm.nih.gov/pubmed/35092359
http://dx.doi.org/10.1002/mgg3.1877

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922956/
https://www.ncbi.nlm.nih.gov/pubmed/35092359
http://dx.doi.org/10.1002/mgg3.1877

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