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Q28265767-71583061-4817-4178-8DFF-BF79EF0E800C
Q28265767-71583061-4817-4178-8DFF-BF79EF0E800C
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Statement
http://www.wikidata.org/entity/statement/Q28265767-71583061-4817-4178-8DFF-BF79EF0E800C
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-71583061-4817-4178-8DFF-BF79EF0E800C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-71583061-4817-4178-8DFF-BF79EF0E800C
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wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome