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Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects (title)

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Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effectsSepp, Mari; Pruunsild, Priit; Timmusk, TõnisHuman molecular genetics2012 / p. 2873-2888 https://pubmed.ncbi.nlm.nih.gov/22460224/

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