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

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 patients. M...

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Detalles Bibliográficos
Autores principales: Qi, Xiao-Ping, Zhao, Jian-Qiang, Fang, Xu-Dong, Lian, Bi-Jun, Li, Feng, Wang, Hui-Hong, Cao, Zhi-Lie, Zheng, Wei-Hui, Cao, Juan, Chen, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028819/
https://www.ncbi.nlm.nih.gov/pubmed/33827484
http://dx.doi.org/10.1186/s12885-021-08116-9