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Q37350517-4617AA8F-375F-4620-A7AD-6E4C38868A23
Q37350517-4617AA8F-375F-4620-A7AD-6E4C38868A23
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Statement
http://www.wikidata.org/entity/statement/Q37350517-4617AA8F-375F-4620-A7AD-6E4C38868A23
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
P2860
Q37350517-4617AA8F-375F-4620-A7AD-6E4C38868A23
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37350517-4617AA8F-375F-4620-A7AD-6E4C38868A23
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wasDerivedFrom
b34743524e3308723988e7d65470e32744457f7f
P2860
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.