Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.R116W
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AGA

NM_000027.4:p.R116W

Associated Papers

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.

Goodspeed K et al.

Journal of Child Neurology, 2021

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.

Banning A et al.

Scientific Reports, 2016

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T et al.

Journal of Child Neurology, 2014

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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."