Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8ACornelis A. Albers,Dirk S. Paul,Harald Schulze,Kathleen Freson,Jonathan Stephens,Peter A. Smethurst,Jennifer Jolley,Ana Cvejic,Myrto Kostadima,Paul Bertone,Martijn H. Breuning,Najet Debili,Panos Deloukas,Rémi Favier, Janine Fiedler,Catherine M. Hobbs,Ni Huang, Graham Kiddle, Ingrid P. C. Krapels,Paquita Nurden,Claudia Ruivenkamp,Jennifer Sambrook,Kenneth Smith,Derek L. Stemple,Gabriele Strauss,Chantal Thys,Chris Van Geet,Ruth Newbury-Ecob,Willem H. Ouwehand,Cedric GhevaertBRITISH JOURNAL OF HAEMATOLOGY（2012）引用 23|浏览24暂无评分AI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
