Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.I36T
Back to variants list

FAH

NM_000137.4:p.I36T

Associated Papers

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).

Chi H et al.

Molecular Genetics & Genomic Medicine, 2023

36369907 (PubMed )
Supplement: MGG3-11-e2090-s001.xlsx › Sheet1
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."