Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.V426delFs
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AGL

NM_000642.3:p.V426delFs

Associated Papers

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Horvath JJ et al.

Molecular Genetics and Metabolism, 2012

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Goldstein JL et al.

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