Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H318R
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FH

NM_000143.4:p.H318R

Associated Papers

Response to Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patients With Cortisol-Secreting Adrenocortical Adenoma".

Suda K et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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_gnomAD
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