Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.Y1428*
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AGL

NM_000642.3:p.Y1428*

Associated Papers

International Conference on Translational Medicine 2025 Abstracts.

Unknown Author

Journal of Translational Internal Medicine, 2025

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Latif M et al.

Journal of Clinical Medicine, 2024

Glycogen storage disease with massive left ventricular hypertrophy and increased native T1: a case report.

Wang J et al.

European Heart Journal. Case Reports, 2023

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.

Yu T et al.

International Journal of Endocrinology, 2023

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Dong R et al.

Frontiers in Genetics, 2022

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2021

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Lu C et al.

Journal of Human Genetics, 2016

[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].

Wang X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."