Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.R381G
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AGXT

NM_000030.3:p.R381G

Associated Papers

Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.

Macias I et al.

The Journal of Biological Chemistry, 2019

31300554 (PubMed )
Supplement: supp_RA119.009367_152848_2_supp_361587_pch9lf.pdf
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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."