Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.I216I
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FAH

NM_000137.4:p.I216I

Associated Papers

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

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
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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."