Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Y465D
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FH

NM_000143.4:p.Y465D

Associated Papers

Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.

Palafox MF et al.

American Journal of Human Genetics, 2025

FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.

Wilde BR et al.

Cancer Discovery, 2023

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › allFH_missense
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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."