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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MGAM

Variant:p.V478M

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MGAM

NM_001365693.1:p.V478M

hg38:chr7:142030719 G>A

Associated Papers

Adult Pompe disease: Analysis of 13 patients.

Martín-Jiménez P et al.

Medicina Clinica, 2025

39155212 (PubMed )

Glycogenosis type II (acid maltase deficiency).

Reuser AJ et al.

Muscle & Nerve. Supplement, 1995

7603530 (PubMed )

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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."