Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E126_V127Splc
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FH

NM_000143.4:p.E126_V127Splc

Associated Papers

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.

Wyvekens N et al.

Genes, Chromosomes & Cancer, 2020

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

Fumarate hydratase as a therapeutic target in renal cancer.

Kancherla P et al.

Expert Opinion on Therapeutic Targets, 2020

Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).

Chan E et al.

The American Journal of Surgical Pathology, 2019

Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.

Rabban JT et al.

The American Journal of Surgical Pathology, 2019

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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."