Associated Papers
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Yagi Y et al.
Human Genome Variation, 2022
35034951 (PubMed )
Supplement: 41439_2021_180_MOESM1_ESM.pdf
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 without cutaneous manifestations in two Japanese siblings.
Noguchi G et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2018
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