Varaico: Literature-Extracted Genetic Variants

Gene:NAGPA
Variant:p.H84Q
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NAGPA

NM_016256.4:p.H84Q

Associated Papers

Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme.

Das D et al.

The Journal of Biological Chemistry, 2013

A role for inherited metabolic deficits in persistent developmental stuttering.

Kang C et al.

Molecular Genetics and Metabolism, 2012

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

Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.

Lee WS et al.

The Journal of Biological Chemistry, 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."