Genes and Diseases (Nov 2024)
Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis
- Giovanna Forte,
- Valentina Grossi,
- Filomena Cariola,
- Antonia Lucia Buonadonna,
- Paola Sanese,
- Katia De Marco,
- Candida Fasano,
- Martina Lepore Signorile,
- Vittoria Disciglio,
- Cristiano Simone
Affiliations
- Giovanna Forte
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Valentina Grossi
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Filomena Cariola
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Antonia Lucia Buonadonna
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Paola Sanese
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Katia De Marco
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Candida Fasano
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Martina Lepore Signorile
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy
- Vittoria Disciglio
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy; Corresponding author.
- Cristiano Simone
- Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy; Medical Genetics, Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J), University of Bari Aldo Moro, Bari 70124, Italy; Corresponding author. Medical Genetics, National Institute of Gastroenterology IRCCS “S. de Bellis” Research Hospital, Castellana Grotte, Bari 70013, Italy.
- Journal volume & issue
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Vol. 11,
no. 6
p. 101078