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Q42919362-AFE42991-2F8C-4CC0-8DBE-35FE04DE30CE
Q42919362-AFE42991-2F8C-4CC0-8DBE-35FE04DE30CE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42919362-AFE42991-2F8C-4CC0-8DBE-35FE04DE30CE
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
P2093
Q42919362-AFE42991-2F8C-4CC0-8DBE-35FE04DE30CE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42919362-AFE42991-2F8C-4CC0-8DBE-35FE04DE30CE
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
f91438304c88d6517619d9daa2c0d11ab4a1f8d4
P1545
14
http://www.w3.org/2001/XMLSchema#string
P2093
Sacha Ferdinandusse
http://www.w3.org/2001/XMLSchema#string