Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.C306R
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AGA

NM_000027.4:p.C306R

Associated Papers

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.

Goodspeed K et al.

Journal of Child Neurology, 2021

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

Structural basis of aspartylglucosaminuria.

Saito S et al.

Biochemical and Biophysical Research Communications, 2008

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

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."