Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.V189I
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FAH

NM_000137.4:p.V189I

Associated Papers

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

41696640 (PubMed )
Supplement: Supplementaryfile1.zip › 20260103_SupMaterial › Supplementary_Table_S4.XLSX › Sheet1

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

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A et al.

Case Reports in Genetics, 2018

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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."