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N-acetylglutamate synthase deficiency (sequence analysis of NAGS gene)
+ info
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N-MYC amplification study
+ info
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Nager syndrome (deletion/duplication analysis on SF3B4 gene)
+ info
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Nail-Patella syndrome (sequence analysis of LMX1B gene)
+ info
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Nail-patella syndrome (sequence analysis of LMX1B gene)
+ info
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Nance-Horan syndrome (sequence analysis of NHS gene)
+ info
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Nanophthalmia (sequence analysis of MFRP gene)
+ info
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Narcolepsy 1 (sequence analysis of HCRT gene)
+ info
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Nasu-Hakola disease (sequence analysis of TREM2 gene)
+ info
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Nasu-Hakola disease (sequence analysis of TYROBP gene)
+ info
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Natural killer cell and glucocorticoid deficiency with DNA repair defect (sequence analysis of MCM4 gene)
+ info
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Navajo neurohepatopathy (sequence analysis of MPV17 gene)
+ info
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Nemaline myopathy (NGS panel for 10 genes)
+ info
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Nemaline myopathy 1 (sequence analysis of TPM3 gene)
+ info
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Nemaline myopathy 2 (sequence analysis of NEB gene)
+ info
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Nemaline myopathy 3 (sequence analysis of ACTA1 gene)
+ info
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Nemaline myopathy 4 (sequence analysis of TPM2 gene)
+ info
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Nemaline myopathy 5 (sequence analysis of TNNT1 gene)
+ info
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Nemaline myopathy 6 (sequence analysis of KBTBD13 gene)
+ info
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Nemaline myopathy 7 (sequence analysis of CFL2 gene)
+ info
