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- NAGS: N-acetylglutamate synthase
- NBN: nibrin
- NCF1: neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)
- NDP: Norrie disease (pseudoglioma)
- NDRG1: N-myc downstream regulated gene 1
- NEFH: neurofilament, heavy polypeptide 200kDa
- NEFL: neurofilament, light polypeptide 68kDa
- NEFM: neurofilament, medium polypeptide 150kDa
- NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
- NF2: neurofibromin 2 (bilateral acoustic neuroma)
- NIPBL: Nipped-B homolog (Drosophila)
- NOD2: nucleotide-binding oligomerization domain containing 2
- NOTCH2: Notch homolog 2 (Drosophila)
- NOTCH3: Notch homolog 3 (Drosophila)
- NPC1: Niemann-Pick disease, type C1
- NPC2: Niemann-Pick disease, type C2
- NR0B1: nuclear receptor subfamily 0, group B, member 1
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- NSD1: nuclear receptor binding SET domain protein 1
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