Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N329S
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FH

NM_000143.4:p.N329S

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

Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.

Fagundes GFC et al.

European Journal of Endocrinology, 2025

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

Ferris S et al.

Genetics in Medicine Open, 2025

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_ClinVar

Germline FH mutations presenting with pheochromocytoma.

Clark GR et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."