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Q33784356-12B0E63A-DB36-42B9-A63A-296FCBDC769A
Q33784356-12B0E63A-DB36-42B9-A63A-296FCBDC769A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33784356-12B0E63A-DB36-42B9-A63A-296FCBDC769A
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
P2860
Q33784356-12B0E63A-DB36-42B9-A63A-296FCBDC769A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33784356-12B0E63A-DB36-42B9-A63A-296FCBDC769A
rank
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type
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Statement
wasDerivedFrom
8bbd1a1d945d92a87b8df6cd188ab76dc5e97061
P2860
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome