Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.A106T
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GNPTAB

NM_024312.5:p.A106T

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

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 types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH et al.

European Journal of Human Genetics : Ejhg, 2016

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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."