Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.G60D
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AGA

NM_000027.4:p.G60D

Associated Papers

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.

Goodspeed K et al.

Journal of Child Neurology, 2021

Structural basis of aspartylglucosaminuria.

Saito S et al.

Biochemical and Biophysical Research Communications, 2008

Loss of protein structure stability as a major causative factor in monogenic disease.

Yue P et al.

Journal of Molecular Biology, 2005

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

Saarela J et al.

Human Molecular Genetics, 2001

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

Spectrum of mutations in aspartylglucosaminuria.

Ikonen E et al.

Proceedings of the National Academy of Sciences of the United States of America, 1991

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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."