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Q28265767-28BDE74C-607B-44CE-A62B-8E007D2F4266
Q28265767-28BDE74C-607B-44CE-A62B-8E007D2F4266
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http://www.wikidata.org/entity/statement/Q28265767-28BDE74C-607B-44CE-A62B-8E007D2F4266
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-28BDE74C-607B-44CE-A62B-8E007D2F4266
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http://www.wikidata.org/entity/statement/Q28265767-28BDE74C-607B-44CE-A62B-8E007D2F4266
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ce9c378eab509196bd2620b4236e1046e2693385
P2860
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction