Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.S185Splc
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FAH

NM_000137.4:p.S185Splc

Associated Papers

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A et al.

Jimd Reports, 2011

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Ferrer-Bolufer I et al.

Journal of Inherited Metabolic Disease, 2009

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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."