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BRENDA support

Literature summary for 2.4.2.7 extracted from

  • Sahota, A.; Chen, J.; Boyadijev, S.A.; Gault, M.H.; Tischfield, J.A.
    Missense mutation in the adenine phosphoribosyl-transferase gene causing 2,8-dihydroxyadenine urolithiasis (1994), Hum. Mol. Genet., 3, 817-818.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
L110P mutation is associated with renal dysfunction Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney
-
Homo sapiens
-