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Q58612544-818E8F00-AFA6-4BE2-8518-862D589DA49A
Q58612544-818E8F00-AFA6-4BE2-8518-862D589DA49A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58612544-818E8F00-AFA6-4BE2-8518-862D589DA49A
A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
P2860
Q58612544-818E8F00-AFA6-4BE2-8518-862D589DA49A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58612544-818E8F00-AFA6-4BE2-8518-862D589DA49A
rank
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Statement
wasDerivedFrom
92b6c9be8e03bd886a70d74aa2322b34f768e97c
P2860
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome