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
Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.
Zheng L et al.
The Journal of Clinical Investigation, 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 › FH_ClinVar
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
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