Analysis of rare thalassemia genetic variants based on third-generation sequencing

Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized i...

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Detalles Bibliográficos
Autores principales: Peng, Cuiting, Zhang, Haixia, Ren, Jun, Chen, Han, Du, Ze, Zhao, Tong, Mao, Aiping, Xu, Ruofan, Lu, Yulin, Wang, He, Chen, Xinlian, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9197973/
https://www.ncbi.nlm.nih.gov/pubmed/35701592
http://dx.doi.org/10.1038/s41598-022-14038-8

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