Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.D760delFs
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GNPTAB

NM_024312.5:p.D760delFs

Associated Papers

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV et al.

Human Mutation, 2019

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007

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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."