Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T375I
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FH

NM_000143.4:p.T375I

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 › allFH_missense

Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Niwinska A et al.

Diagnostics (basel, Switzerland), 2020

32731384 (PubMed )
Supplement: diagnostics-10-00523-s001.zip › diagnostics-851816-supplementary.xlsx › Supplementary_Table_S2

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

Muller M et al.

Clinical Genetics, 2017

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