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Literature summary for 2.4.1.224 extracted from

  • Wuyts, W.; van Hul, W.
    Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes (2000), Hum. Mutat., 15, 220-227.
    View publication on PubMed

Application

Application Comment Organism
medicine analysis of enzyme mutations in patients with hereditary multiple exostoses, mutation spectrum Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
enzymes EXT1 and EXT2
-