Literature summary for 2.4.2.7 extracted from

Hidaka, Y.; Tarle, S.A.; Fujimori, S.; Kamatani, N.; Kelley, W.N.; Palella, T.D.
Human adenine phosphoribosyl-transferase deficiency. Demonstration of a single mutant allele common to the Japanese (1988), J. Clin. InVest., 81, 945-950.

Protein Variants

Protein Variants	Comment	Organism
M136T	10.3% loss of activity	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms	Comment	Organism
ApTR	-	Homo sapiens

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Release 2023.1 (January 2023)