Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.R637_I640del0
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MGAM

NM_001365693.1:p.R637_I640del0

Associated Papers

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.

Chen LS et al.

Journal of Human Genetics, 2024

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Aung-Htut MT et al.

Scientific Reports, 2020

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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."