GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

The implementation of high‐throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, and platelet disorders (BTPD), and revealed multiple genetic variants linked to those disorders, many of them being of uncertain pathoge...

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Detalles Bibliográficos
Autores principales: Megy, Karyn, Downes, Kate, Morel‐Kopp, Marie‐Christine, Bastida, José M., Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V., Othman, Maha, Ouwehand, Willem H., Perez Botero, Juliana, Rivera, José, Schulze, Harald, Trégouët, David‐Alexandre, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Isth Ssc Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291976/
https://www.ncbi.nlm.nih.gov/pubmed/34355501
http://dx.doi.org/10.1111/jth.15459

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