Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G464Splc
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FH

NM_000143.4:p.G464Splc

Associated Papers

Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2026

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

Fumarate hydratase as a therapeutic target in renal cancer.

Kancherla P et al.

Expert Opinion on Therapeutic Targets, 2020

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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."