Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Y491H
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FH

NM_000143.4:p.Y491H

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

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas.

Fieuw A et al.

International Journal of Cancer, 2012

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