Condition: Phosphoribosylpyrophosphate Synthetase Superactivity
rs137852540
in
PRPS1
gene and
Phosphoribosylpyrophosphate Synthetase Superactivity
PMID 7593598
1995 The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
PMID 23519317
2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.