Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

标题
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
作者
关键词
RNA, NF1, Splicing mutation, Deep intronic, Legius, SPRED1, Café au lait
出版物
EBioMedicine
Volume 7, Issue -, Pages 212-220
出版商
Elsevier BV
发表日期
2016-04-13
DOI
10.1016/j.ebiom.2016.04.005

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