OC 75.1 First US Rare Bleeding Disorder Genotype-Phenotype Registry (ATHN 10) Discovers Many Individuals with Both Novel and Multiple Variants using a Customized 30-Gene Next-Generation Sequencing Panel

D. Nugent, S. Williams, C. Ashburner, N. Crook, H. Momoh,M. Recht, M. Chandler, A. Shapiro

Research and Practice in Thrombosis and Haemostasis(2023)

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关键词
athn,multiple variants,genotype-phenotype,next-generation
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