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Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome

BACKGROUND: Lynch syndrome (LS) is caused by a germline mutation in one of the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. The definition of Lynch syndrome is based on clinical, pathological, and genetic findings. Therefore, the identification of susceptibility genes is...

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Detalles Bibliográficos
Autores principales: He, Wan, Dong, Shaowei, Shen, Jing, Wu, Jiutong, Zhao, Pan, Li, Dongbing, Wang, Dongliang, Tang, Na, Zou, Chang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978139/
https://www.ncbi.nlm.nih.gov/pubmed/36874103
http://dx.doi.org/10.3389/fonc.2023.1036356