Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q246_E247Splc
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FH

NM_000143.4:p.Q246_E247Splc

Associated Papers

Prospective Fumarate Hydratase Tumor Predisposition Syndrome Screening in Patients With Uterine Smooth Muscle Tumors: Age, Morphology, Fumarate Hydratase/S-(2-succino) Cysteine Immunohistochemistry, and Germline Testing.

McHenry A et al.

The American Journal of Surgical Pathology, 2025

The use of Clinicopathological, immunohistochemistry and molecular detection in the diagnosis of fumarate hydratase-deficient uterine leiomyomas.

Zhang X et al.

Pathology, Research and Practice, 2024

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_LOVD

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."