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Q39372163-231507E9-73A8-40F7-AD52-8FAEFF8663D9
Q39372163-231507E9-73A8-40F7-AD52-8FAEFF8663D9
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Statement
http://www.wikidata.org/entity/statement/Q39372163-231507E9-73A8-40F7-AD52-8FAEFF8663D9
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
P2860
Q39372163-231507E9-73A8-40F7-AD52-8FAEFF8663D9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39372163-231507E9-73A8-40F7-AD52-8FAEFF8663D9
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4e1b4b0aa27b588ff285863a20fc38b79dbc8a3b
P2860
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum