Associated Papers
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N et al.
Nature Communications, 2020
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.
Evans DG et al.
Ebiomedicine, 2016
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