Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.Q64delFs
Back to variants list

FAH

NM_000137.4:p.Q64delFs

Associated Papers

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.

Kawabata K et al.

Molecular Genetics and Metabolism Reports, 2022

35800472 (PubMed )
Supplement: mmc4.docx

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Morrow G et al.

Advances in Experimental Medicine and Biology, 2017

Hereditary Tyrosinemia Type 1 in Turkey.

Aktuglu-Zeybek AC et al.

Advances in Experimental Medicine and Biology, 2017

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Angileri F et al.

Jimd Reports, 2015

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

Dursun A et al.

Jimd Reports, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."