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Q38790818-B67D88CC-4170-45CA-A0C3-D776C36505F0
Q38790818-B67D88CC-4170-45CA-A0C3-D776C36505F0
BestRank
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http://www.wikidata.org/entity/statement/Q38790818-B67D88CC-4170-45CA-A0C3-D776C36505F0
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-B67D88CC-4170-45CA-A0C3-D776C36505F0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38790818-B67D88CC-4170-45CA-A0C3-D776C36505F0
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type
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wasDerivedFrom
66aaa2a2321350ae1bb5d0b9699c52853eaec34e
P2860
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.