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Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

HbVar (http://globin.bx.psu.edu/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to provide timely information on the numerous genomic variants leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Here, we r...

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Detalles Bibliográficos
Autores principales: Giardine, Belinda M, Joly, Philippe, Pissard, Serge, Wajcman, Henri, K. Chui, David H, Hardison, Ross C, Patrinos, George P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7778921/
https://www.ncbi.nlm.nih.gov/pubmed/33125055
http://dx.doi.org/10.1093/nar/gkaa959