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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications using the 2015 American College of Medical Genetics and Genomics...

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Dades bibliogràfiques
Publicat a:Blood Adv
Autors principals: Luo, Xi, Feurstein, Simone, Mohan, Shruthi, Porter, Christopher C., Jackson, Sarah A., Keel, Sioban, Chicka, Michael, Brown, Anna L., Kesserwan, Chimene, Agarwal, Anupriya, Luo, Minjie, Li, Zejuan, Ross, Justyne E., Baliakas, Panagiotis, Pineda-Alvarez, Daniel, DiNardo, Courtney D., Bertuch, Alison A., Mehta, Nikita, Vulliamy, Tom, Wang, Ying, Nichols, Kim E., Malcovati, Luca, Walsh, Michael F., Rawlings, Lesley H., McWeeney, Shannon K., Soulier, Jean, Raimbault, Anna, Routbort, Mark J., Zhang, Liying, Ryan, Gabriella, Speck, Nancy A., Plon, Sharon E., Wu, David, Godley, Lucy A.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849945/
https://ncbi.nlm.nih.gov/pubmed/31648317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2019000644
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