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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.
Search for more literature for 2.4.2.7
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
-