Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.Q1376*
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AGL

NM_000642.3:p.Q1376*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Kor D et al.

Orphanet Journal of Rare Diseases, 2025

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.

Kumar TV et al.

Plos One, 2022

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Mili A et al.

Clinical Genetics, 2012

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Aoyama Y et al.

Journal of Human Genetics, 2009

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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."