Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A103A
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FH

NM_000143.4:p.A103A

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_BRAVO

Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.

Liu C et al.

Histopathology, 2020

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

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.

Barker KT et al.

British Journal of Cancer, 2002

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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."