Vita Setrajcic Dragos Ana Blatnik Gasper Klancar Vida Stegel Mateja Krajc Olga Blatnik Srdjan Novakovic
10.3389/fgene.2019.00762
Front Genet
2019 Aug 22;10:762.
nf1 ngs functional analysis mrna neurofibromatosis type i splicing splicing alteration variant of uncertain significance
CC BY
https://pubmed.ncbi.nlm.nih.gov/31507634/
Case Reports
PMC6714493
31507634
Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
2019