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POMGNT2 gene

Known as: AGO61, GTDC2, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 
 
National Institutes of Health

Papers overview

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2015
2015
Objective: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these… Expand
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Highly Cited
2013
Highly Cited
2013
Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan… Expand
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2013
2013
Hypoglycosylation is a common characteristic of dystroglycanopathy, which is a group of congenital muscular dystrophies. More… Expand
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2013
2013
Dystroglycanopathy is a major class of congenital muscular dystrophy that is caused by a deficiency of functional glycans on… Expand
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Highly Cited
2012
Highly Cited
2012
Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal… Expand
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