Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H135R
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FH

NM_000143.4:p.H135R

Associated Papers

Fumarate hydratase-deficient renal cell carcinoma: a single institution-based study of 29 patients by clinicopathological, immunohistochemical and genetic approaches.

Lee S et al.

Pathology, 2025

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping.

Chen C et al.

Journal of Assisted Reproduction and Genetics, 2023

FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.

Wilde BR et al.

Cancer Discovery, 2023

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

Treatment of three hereditary leiomyomatosis patients with cryotherapy.

Uyar B et al.

Dermatologic Therapy, 2020

A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients.

Lau HD et al.

The American Journal of Surgical Pathology, 2020

Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.

Rabban JT et al.

The American Journal of Surgical Pathology, 2019

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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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."