Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D319H
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FH

NM_000143.4:p.D319H

Associated Papers

Fumaric aciduria: an overview and the first Brazilian case report.

Allegri G et al.

Journal of Inherited Metabolic Disease, 2010

A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.

Lorenzato A et al.

International Journal of Cancer, 2008

Fumaric aciduria: clinical and imaging features.

Kerrigan JF et al.

Annals of Neurology, 2000

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Bourgeron T et al.

The Journal of Clinical Investigation, 1994

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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."