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Q55403663-BF6820B2-95CA-4358-BEAC-16BDB1E1CE79
Q55403663-BF6820B2-95CA-4358-BEAC-16BDB1E1CE79
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http://www.wikidata.org/entity/statement/Q55403663-BF6820B2-95CA-4358-BEAC-16BDB1E1CE79
Genitopatellar syndrome: the first reported case in Japan.
P2860
Q55403663-BF6820B2-95CA-4358-BEAC-16BDB1E1CE79
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55403663-BF6820B2-95CA-4358-BEAC-16BDB1E1CE79
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wasDerivedFrom
fa9b49f93370bef42eeeb6242817c9fedf9e1848
P2860
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.