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Q44969265-6E197F2E-53FB-474A-BA38-1C1B6776CC17
Q44969265-6E197F2E-53FB-474A-BA38-1C1B6776CC17
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http://www.wikidata.org/entity/statement/Q44969265-6E197F2E-53FB-474A-BA38-1C1B6776CC17
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
P2860
Q44969265-6E197F2E-53FB-474A-BA38-1C1B6776CC17
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44969265-6E197F2E-53FB-474A-BA38-1C1B6776CC17
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wasDerivedFrom
173c2e35f05bb6b3947632f3f55bde0a8daf37be
P2860
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.