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Q57758171-03D8FAF0-8F27-422B-8B06-B30F45ADC6C1
Q57758171-03D8FAF0-8F27-422B-8B06-B30F45ADC6C1
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Statement
http://www.wikidata.org/entity/statement/Q57758171-03D8FAF0-8F27-422B-8B06-B30F45ADC6C1
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
P2860
Q57758171-03D8FAF0-8F27-422B-8B06-B30F45ADC6C1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57758171-03D8FAF0-8F27-422B-8B06-B30F45ADC6C1
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Statement
wasDerivedFrom
0a76209d3cf091103558449cc3a466888dcbf4d9
P2860
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.