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Q47203739-1A9F6C5A-313F-4D9A-9973-E1AA3BA904C7
Q47203739-1A9F6C5A-313F-4D9A-9973-E1AA3BA904C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47203739-1A9F6C5A-313F-4D9A-9973-E1AA3BA904C7
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
P2860
Q47203739-1A9F6C5A-313F-4D9A-9973-E1AA3BA904C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47203739-1A9F6C5A-313F-4D9A-9973-E1AA3BA904C7
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4a33466409afca419b05292f2a7ed31ace12a7bf
P2860
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.