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Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4
Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4
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Statement
http://www.wikidata.org/entity/statement/Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4
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type
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wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome