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Browsing by Subject "Genotype-phenotype relation"

Browsing by Subject "Genotype-phenotype relation"

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  • Terzi, Yunus Kasım; Oğuzkan-Balcı, Sibel; Anlar, Banu; Varan, Ali; Ersoy-Evans, Sibel; Sharafi, Parisa; Ayter, Şükriye (Elsevier B.V., 2018-02)
    Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant ...