Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H235R
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FH

NM_000143.4:p.H235R

Associated Papers

Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.

Liu Y et al.

The Journal of Pathology, 2026

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_COSMIC

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

Muller M et al.

Clinical Genetics, 2017

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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."