DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Velho RV, Ludwig NF, Alegra T. , et al.
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
J Hum Genet 2016;
61 (06) 555-560
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