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Q53340675-F1DEBD2B-CCE1-4E4B-B442-D8AC00D4B593
Q53340675-F1DEBD2B-CCE1-4E4B-B442-D8AC00D4B593
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53340675-F1DEBD2B-CCE1-4E4B-B442-D8AC00D4B593
Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
P2860
Q53340675-F1DEBD2B-CCE1-4E4B-B442-D8AC00D4B593
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53340675-F1DEBD2B-CCE1-4E4B-B442-D8AC00D4B593
rank
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type
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Statement
wasDerivedFrom
7915b8c0947dfc6b961ea093e50eecbb34914ad0
P2860
Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.