Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E355*
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FH

NM_000143.4:p.E355*

Associated Papers

Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.

Patócs A et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Clinicopathologic Analysis and Molecular Profiling of Ovarian Steroid Cell Tumors.

Mendoza RP et al.

The American Journal of Surgical Pathology, 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
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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."