Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.C64*
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AGA

NM_000027.4:p.C64*

Associated Papers

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.

Goodspeed K et al.

Journal of Child Neurology, 2021

Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.

Banning A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Saarela J et al.

Human Molecular Genetics, 2001

Aspartylglycosaminuria: biochemistry and molecular biology.

Aronson NN

Biochimica Et Biophysica Acta, 1999

Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.

Mononen I et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1993

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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."