Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S480*
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FH

NM_000143.4:p.S480*

Associated Papers

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

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K et al.

British Journal of Cancer, 2016

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.

Mäkinen N et al.

International Journal of Cancer, 2014

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