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Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis

BACKGROUND: The high prevalence of β-thalassemia indicates the severe medical burden in Guangxi province in China. Millions of thousands of prenatal women with healthy or thalassemia-carrying fetuses received an unnecessary prenatal diagnosis. We designed a prospective single-center proof-of-concept...

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Detalles Bibliográficos
Autores principales:	Jia, Wenguang, Shi, Jiying, Zhu, Hengying, Wu, Xiaojing, Ling, Yayun, Chen, Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072416/ https://www.ncbi.nlm.nih.gov/pubmed/37014894 http://dx.doi.org/10.1371/journal.pone.0283668

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