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Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants

Background: Thalassemia is the most prevalent monogenic disorder caused by an imbalance between the α- and β-globin chains as a result of pathogenic variants in the α- or β-globin genes. Novel or complex structural changes in globin genes are major hurdles for genetic consulting and prenatal diagnos...

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Detalles Bibliográficos
Autores principales:	Jiang, Fan, Zhou, Jianying, Zuo, Liandong, Tang, Xuewei, Li, Jian, Li, Fatao, Yang, Tianhe, Qu, Yanxia, Wan, Junhui, Liao, Can, Li, Dongzhi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387553/ https://www.ncbi.nlm.nih.gov/pubmed/37529778 http://dx.doi.org/10.3389/fgene.2023.1208102

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