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Literature summary for 3.5.4.16 extracted from

  • Hu, F.Y.; Xu, Y.M.; Yu, L.H.; Ma, M.Y.; He, X.H.; Zhou, D.
    A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population (2011), Eur. J. Neurol., 18, 362-364.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
G155S the mutation is associated with Dopa-responsive dystonia in Chines Han population Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
GCH1
-
Homo sapiens