Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.Y79*
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GNPTG

NM_032520.5:p.Y79*

Associated Papers

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.

Gao Y et al.

Molecular Genetics and Metabolism, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."