Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.S782F
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GNPTAB

NM_024312.5:p.S782F

Associated Papers

Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.

Feng Y et al.

Bmc Pediatrics, 2024

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

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y et al.

Acta Pharmacologica Sinica, 2019

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

Liu S et al.

Plos One, 0

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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."