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1
Q51456240-8EFDBF4F-B71C-497B-B9B3-4EE23A67F10E
Q51456240-8EFDBF4F-B71C-497B-B9B3-4EE23A67F10E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51456240-8EFDBF4F-B71C-497B-B9B3-4EE23A67F10E
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
P2093
Q51456240-8EFDBF4F-B71C-497B-B9B3-4EE23A67F10E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51456240-8EFDBF4F-B71C-497B-B9B3-4EE23A67F10E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e16ac9273640f558a85a7bcfb8c1acd915c5435d
P1545
2
http://www.w3.org/2001/XMLSchema#string
P2093
Jaime Lopez
http://www.w3.org/2001/XMLSchema#string