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Q28080625-EFB41138-D0ED-406F-9AF8-43602E80A767
Q28080625-EFB41138-D0ED-406F-9AF8-43602E80A767
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Statement
http://www.wikidata.org/entity/statement/Q28080625-EFB41138-D0ED-406F-9AF8-43602E80A767
Association of PRPS1 Mutations with Disease Phenotypes
P2860
Q28080625-EFB41138-D0ED-406F-9AF8-43602E80A767
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28080625-EFB41138-D0ED-406F-9AF8-43602E80A767
rank
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type
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wasDerivedFrom
a45db6914f79d245d0d456e8f46c821ac2a72acd
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)