Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

Abstract Background Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese pat...

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Autores principales:	Xiao-Ping Qi, Jian-Qiang Zhao, Xu-Dong Fang, Bi-Jun Lian, Feng Li, Hui-Hong Wang, Zhi-Lie Cao, Wei-Hui Zheng, Juan Cao, Yu Chen
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2021-04-01
Colección:	BMC Cancer
Materias:	RET proto-oncogene Multiple endocrine neoplasia type 2 Medullary thyroid cancer Pheochromocytoma Hyperparathyroidism Genetic variants
Acceso en línea:	https://doi.org/10.1186/s12885-021-08116-9
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