Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q148E
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FH

NM_000143.4:p.Q148E

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_COSMIC

Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Zhu Y et al.

Nature Communications, 2018

29500430 (PubMed )
Supplement: 41467_2018_3311_MOESM5_ESM.xlsx › SAAVs_and_orthogonal_evidence
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