Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.M1V
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AGL

NM_000642.3:p.M1V

Associated Papers

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.

Moghimi P et al.

Biochemical Genetics, 2025

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

de Luna N et al.

Neuromuscular Disorders : Nmd, 2014

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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."