Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L246R
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GAA

NM_000152.5:p.L246R

Associated Papers

Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Roig-Zamboni V et al.

Nature Communications, 2017

29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf

Playing competitive basketball in face of late-onset pompe disease.

Porta F et al.

Muscle & Nerve, 2015

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

Spada M et al.

Molecular Genetics and Metabolism, 2013

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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."