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Literature summary for 4.2.1.2 extracted from

  • Badeloe, S.; Bladergroen, R.S.; Jonkman, M.F.; Burrows, N.P.; Steijlen, P.M.; Poblete-Gutierrez, P.; van Steensel, M.A.; van Geel, M.; Frank, J.
    Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene (2008), J. Dermatol. Sci., 51, 139-143.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
M368T the mutation is associated with hereditarymultiplecutaneous leiomyoma Homo sapiens
S334R the mutation is associated with hereditarymultiplecutaneous leiomyoma Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
fumarase
-
Homo sapiens