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A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

American Journal of Medical Genetics. Part a 155a(4): 931-934

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Accession: 051115249

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PMID: 21416587

DOI: 10.1002/ajmg.a.33834

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