Associated Papers
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.
Kluwe L et al.
American Journal of Medical Genetics, 1998
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