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资源简介:
Sanjana, Wright, 2016, NF2 analysis
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创建时间:
2019-06-20
相关数据集
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Table S2. Age-adjusted associations of clinical features typical for NF1 with the presence of OPG. (XLSX 8 kb)
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Comparison of median tumor volumes at baseline and at follow-up in age-dependent subgroups of NF1 patients with type-1 deletions vs NF1 patients without large deletions of the NF1 gene (control).
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