Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.Y218*
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GNPTG

NM_032520.5:p.Y218*

Associated Papers

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.

La Rosa A et al.

Molecular Genetics and Metabolism Reports, 2025

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

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L11

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Tüysüz B et al.

Gene, 2018

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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."