Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E126_V127Splc
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FH

NM_000143.4:p.E126_V127Splc

Associated Papers

Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.

McMurtry V et al.

American Journal of Clinical 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

Fumarate hydratase as a therapeutic target in renal cancer.

Kancherla P et al.

Expert Opinion on Therapeutic Targets, 2020

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

Herrmann FH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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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."