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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2022
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| Materias: | |
| 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 |