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Q30397202-32A11945-00D6-40BC-82C7-6A93AB54AE40
Q30397202-32A11945-00D6-40BC-82C7-6A93AB54AE40
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-32A11945-00D6-40BC-82C7-6A93AB54AE40
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
P2860
Q30397202-32A11945-00D6-40BC-82C7-6A93AB54AE40
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30397202-32A11945-00D6-40BC-82C7-6A93AB54AE40
rank
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type
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Statement
wasDerivedFrom
636ad966cc76967748ea45714706a3f569997e0e
P2860
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.