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Autor:
Vita Setrajcic Dragos, Srdjan Novaković, Vida Stegel, Gašper Klančar, Ana Blatnik, Mateja Krajc, Olga Blatnik
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics, Vol 10 (2019)
Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders, since the estimated incidence is one in 3,500 births. In this study, we present bioinformatical and functional characterization of two novel splicing NF1 variants,