Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.P30S
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DPAGT1

NM_001382.4:p.P30S

Associated Papers

Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

Brande LV et al.

Neuropathology and Applied Neurobiology, 2023

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Dong YY et al.

Cell, 2018

Congenital myasthenic syndrome caused by mutations in DPAGT.

Klein A et al.

Neuromuscular Disorders : Nmd, 2015

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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."