Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G2V
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GAA

NM_000152.5:p.G2V

Associated Papers

Current status of newborn screening for Pompe disease in Japan.

Sawada T et al.

Orphanet Journal of Rare Diseases, 2021

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K et al.

Journal of Human Genetics, 2019

NFU1 gene mutation and mitochondrial disorders.

Kurt YG et al.

Neurology India, 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."