Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.F347_V349del3
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GNPTAB

NM_024312.5:p.F347_V349del3

Associated Papers

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Dogterom EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Pasumarthi D et al.

Journal of Human Genetics, 2020

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

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."