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Q28265767-EA8AD190-DCAC-4E2C-861C-6CD7898C7650
Q28265767-EA8AD190-DCAC-4E2C-861C-6CD7898C7650
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-EA8AD190-DCAC-4E2C-861C-6CD7898C7650
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-EA8AD190-DCAC-4E2C-861C-6CD7898C7650
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-EA8AD190-DCAC-4E2C-861C-6CD7898C7650
rank
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Statement
wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
A BMAL1 mutant with arginine 91 substituted with alanine acts as a dominant negative inhibitor.