Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.S321G
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GNPTAB

NM_024312.5:p.S321G

Associated Papers

Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering.

Gunasekaran ND et al.

Advanced Genetics (hoboken, N.j.), 2021

Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.

Han TU et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.

Kazemi N et al.

Gene, 2018

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

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.

Coutinho MF et al.

Molecular Genetics and Metabolism, 2012

Genetic approaches to understanding the causes of stuttering.

Drayna D et al.

Journal of Neurodevelopmental Disorders, 2011

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Kang C et al.

The New England Journal of Medicine, 2010

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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."