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GNPTAB, IVS17DS, T-G, +6
National Institutes of Health
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GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
BMC Medical Genetics
Corpus ID: 52196068
BackgroundMucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase…
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