Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.G337D
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FAH

NM_000137.4:p.G337D

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

Fumarylacetoacetase mutations in tyrosinaemia type I.

Rootwelt H et al.

Human Mutation, 1996

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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."