Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.T214T
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MGAM

NM_001365693.1:p.T214T

Associated Papers

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Moravej H et al.

Iranian Journal of Medical Sciences, 2018

Glycogenosis type II (acid maltase deficiency).

Reuser AJ et al.

Muscle & Nerve. Supplement, 1995

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.

Dagnino F et al.

Human Heredity, 0

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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."