Varaico: Literature-Extracted Genetic Variants

Gene:NGLY1
Variant:p.D103E
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NGLY1

NM_018297.4:p.D103E

Associated Papers

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

Tambe MA et al.

Cell Reports, 2019

Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.

Galeone A et al.

Elife, 2017

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

He P et al.

Glycobiology, 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."