Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization

Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that occurs as a result of germline mutations in the APC gene. Despite a clear clinical diagnosis of FAP, a certain proportion of the APC variants are not readily detectable through conventional genotyping routines. We accomplished...

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Detalles Bibliográficos
Autores principales: Bozsik, Anikó, Butz, Henriett, Grolmusz, Vince Kornél, Polgár, Csaba, Patócs, Attila, Papp, János
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326037/
https://www.ncbi.nlm.nih.gov/pubmed/36828923
http://dx.doi.org/10.1038/s41431-023-01322-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326037/
https://www.ncbi.nlm.nih.gov/pubmed/36828923
http://dx.doi.org/10.1038/s41431-023-01322-y

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