Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.R1411_E1414del4
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SI

NM_001041.4:p.R1411_E1414del4

Associated Papers

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.

Nguyen THT et al.

Future Science Oa, 2025

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.

Chien YH et al.

Molecular Genetics and Metabolism Reports, 2017

28480166 (PubMed )
Supplement: mmc1.docx

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Wan L et al.

Journal of Neurology, 2008

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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."