Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.E285K
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SI

NM_001041.4:p.E285K

Associated Papers

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

Pittis MG et al.

American Journal of Medical Genetics. Part A, 2003

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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."