Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M411I
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FH

NM_000143.4:p.M411I

Associated Papers

Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review.

Strakova-Peterikova A et al.

Virchows Archiv : an International Journal of Pathology, 2024

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 › allFH_missense

Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.

Carvajal-Carmona LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."