Varaico: Literature-Extracted Genetic Variants

Gene:PSMD7
Variant:p.E292G
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PSMD7

NM_002811.5:p.E292G

Associated Papers

[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].

Bereznai B et al.

Orvosi Hetilap, 2011

[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].

Merkli H et al.

Orvosi Hetilap, 2006

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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."