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Q28265767-49361E21-77B1-4E6E-8E2B-97EFD2D2D22C
Q28265767-49361E21-77B1-4E6E-8E2B-97EFD2D2D22C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-49361E21-77B1-4E6E-8E2B-97EFD2D2D22C
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-49361E21-77B1-4E6E-8E2B-97EFD2D2D22C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-49361E21-77B1-4E6E-8E2B-97EFD2D2D22C
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type
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Statement
wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).