Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N152D
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FH

NM_000143.4:p.N152D

Associated Papers

First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review.

Zhang L et al.

Sage Open Medical Case Reports, 2026

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

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

37053010 (PubMed )
Supplement: jci-133-165028-s194.xlsx › FH-deficient_RCC_group

Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.

Yu Y et al.

Urologic Oncology, 2021

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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."