Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.M122V
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GAA

NM_000152.5:p.M122V

Associated Papers

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Holzwarth J et al.

Neuropediatrics, 2022

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Szklanny K et al.

Orphanet Journal of Rare Diseases, 2018

Analysis of voice quality in patients with late-onset Pompe disease.

Szklanny K et al.

Orphanet Journal of Rare Diseases, 2016

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.

Różdżyńska-Świątkowska A et al.

Jimd Reports, 2016

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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."