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Q34444679-9B634FF0-C88F-4012-B5C2-4D698A2CF350
Q34444679-9B634FF0-C88F-4012-B5C2-4D698A2CF350
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http://www.wikidata.org/entity/statement/Q34444679-9B634FF0-C88F-4012-B5C2-4D698A2CF350
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
P2860
Q34444679-9B634FF0-C88F-4012-B5C2-4D698A2CF350
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34444679-9B634FF0-C88F-4012-B5C2-4D698A2CF350
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wasDerivedFrom
1c921af71575313182eb28de322cb179169f12b2
P2860
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome