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Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0
Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
P2860
Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-25C68F1C-7E6C-4440-8BD9-581E78DAC4E0
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wasDerivedFrom
4f04b2009fbae2de35483fc57c45bc5c9421e5fd
P2860
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.