Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V139M
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FH

NM_000143.4:p.V139M

Associated Papers

A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.

Tsoy UA et al.

Neuroendocrinology, 2025

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

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_BRAVO

Genetic Study of Alzheimer's Disease in Saudi Population.

El Bitar F et al.

Journal of Alzheimer's Disease : Jad, 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."