Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G370Splc
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FH

NM_000143.4:p.G370Splc

Associated Papers

Fumarate hydratase-deficient renal cell carcinoma: a single institution-based study of 29 patients by clinicopathological, immunohistochemical and genetic approaches.

Lee S et al.

Pathology, 2025

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma.

Bai J et al.

Aging, 2024

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Kim MJ et al.

Frontiers in Genetics, 2022

Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.

Seo JY et al.

Annals of Laboratory Medicine, 2021

Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data.

Kim JY et al.

Annals of Translational Medicine, 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

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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."