Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms caused by loss-of-function mutation of either TSC1 or TSC2. The genetic diagnosis of inherited diseases, including TSC, in the clinical...

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Detalles Bibliográficos
Autores principales: Ura, Hiroki, Togi, Sumihito, Niida, Yo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565506/
https://www.ncbi.nlm.nih.gov/pubmed/37829285
http://dx.doi.org/10.3389/fgene.2023.1256064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565506/
https://www.ncbi.nlm.nih.gov/pubmed/37829285
http://dx.doi.org/10.3389/fgene.2023.1256064

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