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Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变

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Stephen E Hamby; Pablo Reviriego; David N Cooper; Meena Upadhyaya; Nadia Chuzhanova;
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1. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 [J] . Stephen E Hamby, Pablo Reviriego, David N Cooper, Human Genomics . 2013,第1期

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变
2. Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1 [J] . Stephen E Hamby, Pablo Reviriego, David N Cooper, Human Genomics . 2013,第1期

机译：在计算机上筛选预测的远程作用的NF1基因调节元件在1型神经纤维瘤病患者中的突变
3. Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes [J] . ErcolinoT., LaiR., GiachèV., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2014,第2期

机译：受1型神经纤维瘤病和甲状腺C细胞增生影响的患者，其NF1和RET基因均具有致病性种系突变
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Functional Characterization of Genetic Variation with in silico Predictions of Cell-Type-Specific Regulatory Elements [D] . Amariuta, Tiffany. 2020

机译：细胞型调节元素硅预测遗传变异的功能表征
6. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 [O] . Stephen E Hamby, Pablo Reviriego, David N Cooper, 2013

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变
7. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 [O] . Hamby, Stephen E., Reviriego, Pablo, Cooper, David Neil, 2013

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

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