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Q33759379-6B846681-0F47-4284-917B-A2546E03DCCC
Q33759379-6B846681-0F47-4284-917B-A2546E03DCCC
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http://www.wikidata.org/entity/statement/Q33759379-6B846681-0F47-4284-917B-A2546E03DCCC
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
P2860
Q33759379-6B846681-0F47-4284-917B-A2546E03DCCC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33759379-6B846681-0F47-4284-917B-A2546E03DCCC
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wasDerivedFrom
9c68689bb127e081931e4a7fa35759fa28f2f11a
P2860
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction