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1
Q24337506-6ACEF1C2-70D0-4221-B0CB-DF013402EE0D
Q24337506-6ACEF1C2-70D0-4221-B0CB-DF013402EE0D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24337506-6ACEF1C2-70D0-4221-B0CB-DF013402EE0D
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)
P2093
Q24337506-6ACEF1C2-70D0-4221-B0CB-DF013402EE0D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24337506-6ACEF1C2-70D0-4221-B0CB-DF013402EE0D
rank
NormalRank
type
BestRank
Statement
P1545
10
http://www.w3.org/2001/XMLSchema#string
P2093
Sung Hwa Hong
http://www.w3.org/2001/XMLSchema#string