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AJMG.A.34428
AJMG.A.34428
http://dx.doi.org/10.1002/AJMG.A.34428
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
P356
Q55055531-84467CB9-D547-4732-8EC9-F405141F1283
P356
AJMG.A.34428
http://dx.doi.org/10.1002/AJMG.A.34428