Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.S366_W367del1
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FAH

NM_000137.4:p.S366_W367del1

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

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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."