Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q108*
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FH

NM_000143.4:p.Q108*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives.

Catarina T et al.

Journal of Kidney Cancer and Vhl, 2022

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
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