Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.D1364H
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AGL

NM_000642.3:p.D1364H

Associated Papers

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

40696461 (PubMed )
Supplement: 13059_2025_3667_MOESM1_ESM.xlsx › Overlap_between_lines

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.

Gardin A et al.

The Journal of Clinical Investigation, 2024

Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.

Zhai L et al.

Nature Communications, 2016

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Ko JS et al.

Journal of Human Genetics, 2014

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Oh SH et al.

Clinical Chemistry and Laboratory Medicine, 2008

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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."