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Q28265767-42C83E0C-5BD9-4FEC-9B7B-A5C402ED963B
Q28265767-42C83E0C-5BD9-4FEC-9B7B-A5C402ED963B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-42C83E0C-5BD9-4FEC-9B7B-A5C402ED963B
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-42C83E0C-5BD9-4FEC-9B7B-A5C402ED963B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-42C83E0C-5BD9-4FEC-9B7B-A5C402ED963B
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Statement
wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.