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Familial thrombocytopenia: The long and short of it
In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med. https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA seq...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Rockefeller University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142280/ https://www.ncbi.nlm.nih.gov/pubmed/34014260 http://dx.doi.org/10.1084/jem.20210604 |