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Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected...

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Detalles Bibliográficos
Autores principales:	Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440986/ https://www.ncbi.nlm.nih.gov/pubmed/34539758 http://dx.doi.org/10.3389/fgene.2021.734809

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