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Q47555943-092CD22A-8B50-4898-932F-C6A4AD782B86
Q47555943-092CD22A-8B50-4898-932F-C6A4AD782B86
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47555943-092CD22A-8B50-4898-932F-C6A4AD782B86
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.
P2860
Q47555943-092CD22A-8B50-4898-932F-C6A4AD782B86
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47555943-092CD22A-8B50-4898-932F-C6A4AD782B86
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4f4217b7f8cdc15dfc2a3d48ac7826434eaeb38a
P2860
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.