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Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45
Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45
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http://www.wikidata.org/entity/statement/Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
P2860
Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45
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Statement
http://www.wikidata.org/entity/statement/Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45
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wasDerivedFrom
0074d7d162b37e27f3440a0dfe953f901673e0c7
P2860
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.