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Q30397202-0F7E94A2-33FC-4027-BFB5-904846B12851
Q30397202-0F7E94A2-33FC-4027-BFB5-904846B12851
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-0F7E94A2-33FC-4027-BFB5-904846B12851
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
P2860
Q30397202-0F7E94A2-33FC-4027-BFB5-904846B12851
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-0F7E94A2-33FC-4027-BFB5-904846B12851
rank
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Statement
wasDerivedFrom
636ad966cc76967748ea45714706a3f569997e0e
P2860
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)