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Q28265767-1AEE5FBA-C3FF-4518-B9E7-EEE4FD29A0DF
Q28265767-1AEE5FBA-C3FF-4518-B9E7-EEE4FD29A0DF
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Statement
http://www.wikidata.org/entity/statement/Q28265767-1AEE5FBA-C3FF-4518-B9E7-EEE4FD29A0DF
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
P2860
Q28265767-1AEE5FBA-C3FF-4518-B9E7-EEE4FD29A0DF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28265767-1AEE5FBA-C3FF-4518-B9E7-EEE4FD29A0DF
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wasDerivedFrom
ce9c378eab509196bd2620b4236e1046e2693385
P2860
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)