Associated Papers
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.
Wang H et al.
Human Genomics, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
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
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Bhola PT et al.
Familial Cancer, 2018
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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