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Q44969265-4AC1449C-4516-4C84-9FA8-2367960E91C0
Q44969265-4AC1449C-4516-4C84-9FA8-2367960E91C0
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Statement
http://www.wikidata.org/entity/statement/Q44969265-4AC1449C-4516-4C84-9FA8-2367960E91C0
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
P2860
Q44969265-4AC1449C-4516-4C84-9FA8-2367960E91C0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44969265-4AC1449C-4516-4C84-9FA8-2367960E91C0
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wasDerivedFrom
173c2e35f05bb6b3947632f3f55bde0a8daf37be
P2860
Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.