Neurology / Neuropediatrics
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Myopathy (sequence analysis of MTTQ gene)
+ info
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Myopathy, centronuclear 3 (sequence analysis of MYF6 gene)
+ info
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Myopathy, centronuclear 4 (sequence analysis of CCDC78 gene)
+ info
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Myopathy, mitochondrial (sequence analysis of MTTM gene)
+ info
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Myopathy, myofibrillar 4 (sequence analysis of LDB3 gene)
+ info
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Myopathy, myofibrillar 6 (sequence analysis of BAG3 gene)
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Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related (sequence analysis of CRYAB gene)
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Myotilinopathy (sequence analysis of MYOT gene)
+ info
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N-acetylglutamate synthase deficiency (sequence analysis of NAGS gene)
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Nance-Horan syndrome (sequence analysis of NHS gene)
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Narcolepsy 1 (sequence analysis of HCRT gene)
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Nasu-Hakola disease (sequence analysis of TREM2 gene)
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Nasu-Hakola disease (sequence analysis of TYROBP gene)
+ info
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Navajo neurohepatopathy (sequence analysis of MPV17 gene)
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Nemaline myopathy 1 (sequence analysis of TPM3 gene)
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Nemaline myopathy 2 (sequence analysis of NEB gene)
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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)
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Nemaline myopathy 6 (sequence analysis of KBTBD13 gene)
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Nemaline myopathy 7 (sequence analysis of CFL2 gene)
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