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Q42919362-E65136CB-C3BB-445F-B8B2-3A5498F3F877
Q42919362-E65136CB-C3BB-445F-B8B2-3A5498F3F877
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http://www.wikidata.org/entity/statement/Q42919362-E65136CB-C3BB-445F-B8B2-3A5498F3F877
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
P2860
Q42919362-E65136CB-C3BB-445F-B8B2-3A5498F3F877
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42919362-E65136CB-C3BB-445F-B8B2-3A5498F3F877
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d0e18b2d56c6a851181f574a61f18e4290327731
P2860
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.