Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N310Y
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FH

NM_000143.4:p.N310Y

Associated Papers

The Cytopathological Diagnosis of Fumarate Hydratase (FH)-Deficient Renal Cell Carcinoma in Two Patients With FH Gene Mutation.

Zhu X et al.

Cytopathology : Official Journal of the British Society for Clinical Cytology, 2025

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

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bayley JP et al.

Bmc Medical Genetics, 2008

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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."