Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.K898fs
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GNPTAB

NM_024312.5:p.K898fs

Associated Papers

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Yang M et al.

Orphanet Journal of Rare Diseases, 2017

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T et al.

Journal of Human Genetics, 2009

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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."