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Q51456240-39F2ED0D-AD83-408B-B9EB-4EC09A613FAD
Q51456240-39F2ED0D-AD83-408B-B9EB-4EC09A613FAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51456240-39F2ED0D-AD83-408B-B9EB-4EC09A613FAD
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
P50
Q51456240-39F2ED0D-AD83-408B-B9EB-4EC09A613FAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51456240-39F2ED0D-AD83-408B-B9EB-4EC09A613FAD
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e16ac9273640f558a85a7bcfb8c1acd915c5435d
P1545
5
http://www.w3.org/2001/XMLSchema#string
P50
Meena Balasubramanian