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Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis

Introduction: Familial adenomatous polyposis (FAP) is the second most commonly inherited colorectal cancer (CRC) predisposition caused by germline mutations within the adenomatous polyposis coli (APC) gene. The molecular defects and clinical manifestations of two FAP families were analyzed, and indi...

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Detalles Bibliográficos
Autores principales: Li, Juyi, He, Chengzhi, Gong, Jing, Wang, Xiufang, Liu, Chao, Deng, Aiping, Zhu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415011/
https://www.ncbi.nlm.nih.gov/pubmed/37577746
http://dx.doi.org/10.3389/fmolb.2023.1234296