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Q48887866-2678DFBC-16B7-453D-98D1-4B3A443C077C
Q48887866-2678DFBC-16B7-453D-98D1-4B3A443C077C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48887866-2678DFBC-16B7-453D-98D1-4B3A443C077C
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
P2860
Q48887866-2678DFBC-16B7-453D-98D1-4B3A443C077C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48887866-2678DFBC-16B7-453D-98D1-4B3A443C077C
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
28fa8dd909a9dcfa714d13ea4fa760f6f0287445
P2860
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.