Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients

In addition to classic germline APC gene variants, APC mosaicism and deep intronic germline APC variants have also been reported to be causes of adenomatous polyposis. In this study, we investigated 80 unexplained colorectal polyposis patients without germline pathogenic variants in known polyposis...

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Detalles Bibliográficos
Autores principales: Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8799582/
https://www.ncbi.nlm.nih.gov/pubmed/33683519
http://dx.doi.org/10.1007/s10689-021-00236-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8799582/
https://www.ncbi.nlm.nih.gov/pubmed/33683519
http://dx.doi.org/10.1007/s10689-021-00236-2

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