Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.G1100delFs
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AGL

NM_000642.3:p.G1100delFs

Associated Papers

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Kiewiet G et al.

International Journal of Neonatal Screening, 2024

38535124 (PubMed )
Supplement: IJNS-10-00020-s001.zip › 20231205_Supplementary_files_definitief_nieuwerefs.pdf

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Paschall A et al.

Molecular Genetics and Metabolism, 2021

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Halaby CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."