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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 (...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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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