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A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes

Telomere biology disorders (TBDs) induced by TINF2 mutations manifest clinically with a spectrum of phenotypes, from silent carriers to a set of overlapping conditions. A rare TINF2 frameshift mutation (c.591delG) encoding a truncated mutant TIN2 protein (p.W198fs) was identified in a 6-years-and-3-...

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Detalles Bibliográficos
Autores principales:	Ren, Hai-Long, Zheng, Ying-Chun, He, Guo-Qian, Gao, Ju, Guo, Xia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300939/ https://www.ncbi.nlm.nih.gov/pubmed/35873475 http://dx.doi.org/10.3389/fgene.2022.913133

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