Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T234A
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FH

NM_000143.4:p.T234A

Associated Papers

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Michaeli O et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model.

Ferris S et al.

Genetics in Medicine Open, 2025

Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.

Orrego JJ et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2024

Genetic changes in the FH gene cause vagal paraganglioma.

Snezhkina AV et al.

Frontiers in Endocrinology, 2024

A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.

Fuchs TL et al.

The American Journal of Surgical Pathology, 2023

Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma.

Ma X et al.

Annals of the New York Academy of Sciences, 2022

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_BRAVO

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."