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Q48179338-722AE3BC-398D-455A-9C03-7A8124D50C68
Q48179338-722AE3BC-398D-455A-9C03-7A8124D50C68
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48179338-722AE3BC-398D-455A-9C03-7A8124D50C68
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
P2860
Q48179338-722AE3BC-398D-455A-9C03-7A8124D50C68
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48179338-722AE3BC-398D-455A-9C03-7A8124D50C68
rank
NormalRank
type
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Statement
wasDerivedFrom
38a8f5b78fd0d981551529f65679ef2c9f5129f9
P2860
Possible case of Pitt-Hopkins syndrome in sibs.