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Autor:
Vita Setrajcic Dragos, Ana Blatnik, Gasper Klancar, Vida Stegel, Mateja Krajc, Olga Blatnik, Srdjan Novakovic
Publikováno v:
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,
Externí odkaz:
https://doaj.org/article/f37384adbedc4ecba9af196990fd7a13