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Q37590260-45C648E4-5F18-4D6E-A4D7-B1AB71C179B8
Q37590260-45C648E4-5F18-4D6E-A4D7-B1AB71C179B8
BestRank
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http://www.wikidata.org/entity/statement/Q37590260-45C648E4-5F18-4D6E-A4D7-B1AB71C179B8
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.
P2860
Q37590260-45C648E4-5F18-4D6E-A4D7-B1AB71C179B8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37590260-45C648E4-5F18-4D6E-A4D7-B1AB71C179B8
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wasDerivedFrom
dd8719eb097a15daa8451832f194dbb4d5695f67
P2860
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin