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Q39785277-627F24E7-F3CC-47F2-A24E-1290D699344B
Q39785277-627F24E7-F3CC-47F2-A24E-1290D699344B
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Statement
http://www.wikidata.org/entity/statement/Q39785277-627F24E7-F3CC-47F2-A24E-1290D699344B
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
P2860
Q39785277-627F24E7-F3CC-47F2-A24E-1290D699344B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39785277-627F24E7-F3CC-47F2-A24E-1290D699344B
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type
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wasDerivedFrom
1310466f35796c71808c706a32c96e8659ed1b14
P2860
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.