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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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2021
Assuntos:
Platelets and Thrombopoiesis
Acesso em linha: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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