Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.K851K
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MGAM

NM_001365693.1:p.K851K

Associated Papers

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

Oitani Y et al.

Brain & Development, 2018

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Niño MY et al.

Jimd Reports, 2013

Glycogenosis type II (acid maltase deficiency).

Reuser AJ et al.

Muscle & Nerve. Supplement, 1995

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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."