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Q52562811-C5602CF5-DD52-428C-8542-91E2DF59BBF8
Q52562811-C5602CF5-DD52-428C-8542-91E2DF59BBF8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52562811-C5602CF5-DD52-428C-8542-91E2DF59BBF8
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
P2860
Q52562811-C5602CF5-DD52-428C-8542-91E2DF59BBF8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52562811-C5602CF5-DD52-428C-8542-91E2DF59BBF8
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Statement
wasDerivedFrom
e3f7eb69df0a9d0a5aad01e97e0dbd8d782130c8
P2860
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.