Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.R17insFs
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GNPTAB

NM_024312.5:p.R17insFs

Associated Papers

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M et al.

Clinical 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."