Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with diseases, inheritance, and fun...

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Detalles Bibliográficos
Autores principales: Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059334/
https://www.ncbi.nlm.nih.gov/pubmed/33743207
http://dx.doi.org/10.1016/j.ajhg.2021.03.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059334/
https://www.ncbi.nlm.nih.gov/pubmed/33743207
http://dx.doi.org/10.1016/j.ajhg.2021.03.006

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