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Q36755192-4EADD2A4-5BAE-4C27-9600-8B981AB4BE92
Q36755192-4EADD2A4-5BAE-4C27-9600-8B981AB4BE92
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36755192-4EADD2A4-5BAE-4C27-9600-8B981AB4BE92
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
P2860
Q36755192-4EADD2A4-5BAE-4C27-9600-8B981AB4BE92
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36755192-4EADD2A4-5BAE-4C27-9600-8B981AB4BE92
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type
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wasDerivedFrom
0c39a1d27d4cb4a0c0ba60596f2b812c3d30acff
P2860
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.