Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.W500*
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FH

NM_000143.4:p.W500*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer After Subcapsular Renal Hematoma.

Soya K et al.

Iju Case Reports, 2025

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.

Peetsold M et al.

Journal of Child Neurology, 2021

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

Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).

Buelow B et al.

The American Journal of Surgical Pathology, 2016

Fumaric aciduria: an overview and the first Brazilian case report.

Allegri G et al.

Journal of Inherited Metabolic Disease, 2010

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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."