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Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors

Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the PTEN gene have been previously identified in patients with PTEN hamartoma tumor syndrome (...

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Detalles Bibliográficos
Autores principales: Disciglio, Vittoria, Sanese, Paola, Fasano, Candida, Lotesoriere, Claudio, Valentini, Anna Maria, Forte, Giovanna, Lepore Signorile, Martina, De Marco, Katia, Grossi, Valentina, Lolli, Ivan, Cariola, Filomena, Simone, Cristiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025445/
https://www.ncbi.nlm.nih.gov/pubmed/35456450
http://dx.doi.org/10.3390/genes13040644

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