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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Bibliografiset tiedot
Julkaisussa:Blood Adv
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Hematology 2021
Aiheet:
Platelets and Thrombopoiesis
Linkit: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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