Associated Papers
Fumarate hydratase-deficient renal cell carcinoma: high intratumoral and peritumoral CD4-positive T cell infiltration density and high PD-L1 expression.
Yu Y et al.
World Journal of Urology, 2025
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Taniguchi R et al.
Familial Cancer, 2022
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
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
Lamhonwah AM et al.
American Journal of Medical Genetics, 2002
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