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Literature summary for 4.2.1.22 extracted from

  • de Lucca, M.; Casique, L.
    Characterization of cystathionine b-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6 (2004), Mol. Genet. Metab., 81, 209-215.
    View publication on PubMed

Application

Application Comment Organism
diagnostics the mutations present in each country differ from each other depending on the demographic profile. Therefore, specific mutations scanning must be performed in each population for diagnosis and prognosis purposes Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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gene mutations in Venezuelan patients: G85R, T191M, D234N, D444N and Q243X. The mutations present in each country differ from each other depending on the demographic profile
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