Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.W234*
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FAH

NM_000137.4:p.W234*

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2A.Summary_vars_CPGs_MMgenes

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Morrow G et al.

Advances in Experimental Medicine and Biology, 2017

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

Bergeron A et al.

The Journal of Biological Chemistry, 2001

Hereditary tyrosinaemia type I: from basics to progress in treatment.

Pitkänen ST et al.

Annals of Medicine, 2000

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

St-Louis M et al.

Human Mutation, 1997

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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."