Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification among different clinical laboratories, the Am...

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Dades bibliogràfiques
Publicat a:Blood Adv
Autors principals: Ross, Justyne E., Zhang, Bing M., Lee, Kristy, Mohan, Shruthi, Branchford, Brian R., Bray, Paul, Dugan, Stefanie N., Freson, Kathleen, Heller, Paula G., Kahr, Walter H. A., Lambert, Michele P., Luchtman-Jones, Lori, Luo, Minjie, Perez Botero, Juliana, Rondina, Matthew T., Ryan, Gabriella, Westbury, Sarah, Bergmeier, Wolfgang, Di Paola, Jorge
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2021
Matèries:
Platelets and Thrombopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7839359/
https://ncbi.nlm.nih.gov/pubmed/33496739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020003712
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