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    Journal Articles

    Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

    Free
    Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath
    Journal: Blood
    Blood (2019) 134 (Supplement_1): 5794.
    https://doi.org/10.1182/blood-2019-124842
    Published: 2019
    Journal Articles

    Distribution of Pathogenic Variants in Von Willebrand Disease Type 2A in the American Population: Results from a National Clinical Reference Laboratory

    Free
    Ruchika Sharma, MD, Juliana Perez-Botero, MD, Mia J Sullivan, BS, MB, Valerie Trapp-Stamborski, PhD, Mitchell Springer, PhD, Taquanda Gilbert, Jamie McCreery, MS, CGC, Stefanie Dugan, MS, CGC, Lijun Wang, MD PhD, Sandra L Haberichter, PhD, Kenneth Dale Friedman, MD
    Journal: Blood
    Blood (2018) 132 (Supplement 1): 1181.
    https://doi.org/10.1182/blood-2018-99-117620
    Published: 2018

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