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Q48179338-1EC56FE3-1420-44B5-AB3A-8A7D5DAEEFC0
Q48179338-1EC56FE3-1420-44B5-AB3A-8A7D5DAEEFC0
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Statement
http://www.wikidata.org/entity/statement/Q48179338-1EC56FE3-1420-44B5-AB3A-8A7D5DAEEFC0
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
P2860
Q48179338-1EC56FE3-1420-44B5-AB3A-8A7D5DAEEFC0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48179338-1EC56FE3-1420-44B5-AB3A-8A7D5DAEEFC0
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type
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wasDerivedFrom
38a8f5b78fd0d981551529f65679ef2c9f5129f9
P2860
A splice variant of E2-2 basic helix-loop-helix protein represses the brain-specific fibroblast growth factor 1 promoter through the binding to an imperfect E-box.