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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8059334/
https://ncbi.nlm.nih.gov/pubmed/33743207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.03.006
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