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Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0
Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.
P2860
Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47555943-A659E824-8B80-44C1-9597-8B410F9BAEB0
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Statement
wasDerivedFrom
4f4217b7f8cdc15dfc2a3d48ac7826434eaeb38a
P2860
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3