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Q38790818-0B401D7C-E62D-4E12-9514-53F207A8838E
Q38790818-0B401D7C-E62D-4E12-9514-53F207A8838E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38790818-0B401D7C-E62D-4E12-9514-53F207A8838E
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
P2860
Q38790818-0B401D7C-E62D-4E12-9514-53F207A8838E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38790818-0B401D7C-E62D-4E12-9514-53F207A8838E
rank
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type
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Statement
wasDerivedFrom
66aaa2a2321350ae1bb5d0b9699c52853eaec34e
P2860
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.