机译:传统的和有针对性的外显子组测序揭示了在美国居住的泌尿道畸形患者队列中,RET信号复合物中常见,罕见和新颖的功能性有害变异体
Department of Genetics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Genetics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110, USA;
机译:传统的和有针对性的外显子组测序揭示了美国在职泌尿系统畸形患者队列中RET信号复合体的常见,罕见和新型功能性有害变异
机译:与骨矿物密度(BMD)相关的基因组宽的基因组的靶向序列显示出显着的新颖和罕见的变种:基因组流行病学的心脏和老化研究队列(电荷)靶向测序研究
机译:全基因组测序揭示了持久性注意力缺陷/多动障碍患者的候选风险基因中罕见的功能性和破坏性变异的负担增加
机译:传统和有针对性的Exome测序揭示了在患有泌尿道畸形患者的生活患者中的RET信号复合物中常见罕见和新的功能性有害变体。
机译:外壳测序揭示了与ACE抑制剂和血管紧张素受体阻滞剂诱导的血管后症相关的常见和罕见的变体