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