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Q53212278-F3FDC151-6A53-444C-81DF-91CB8F7170F1
Q53212278-F3FDC151-6A53-444C-81DF-91CB8F7170F1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53212278-F3FDC151-6A53-444C-81DF-91CB8F7170F1
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
P2860
Q53212278-F3FDC151-6A53-444C-81DF-91CB8F7170F1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53212278-F3FDC151-6A53-444C-81DF-91CB8F7170F1
rank
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Statement
wasDerivedFrom
6a08e24cd7b780d56e0a9a65bcad9a2ecd220fc9
P2860
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome