Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.Q6fs
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AGL

NM_000642.3:p.Q6fs

Associated Papers

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.

Rees D et al.

Frontiers in Oncology, 2024

39184053 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_3

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Hijazi G et al.

Molecular Genetics and Metabolism Reports, 2021

Glycogen storage disease type III in the Irish population.

Crushell E et al.

Journal of Inherited Metabolic Disease, 2010

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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."