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Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer

Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we performed whole-exome sequencing on six members of...

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Detalles Bibliográficos
Autores principales: Miao, Beiping, Skopelitou, Diamanto, Srivastava, Aayushi, Giangiobbe, Sara, Dymerska, Dagmara, Paramasivam, Nagarajan, Kumar, Abhishek, Kuświk, Magdalena, Kluźniak, Wojciech, Paszkowska-Szczur, Katarzyna, Schlesner, Matthias, Lubinski, Jan, Hemminki, Kari, Försti, Asta, Bandapalli, Obul Reddy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836109/
https://www.ncbi.nlm.nih.gov/pubmed/35163215
http://dx.doi.org/10.3390/ijms23031295