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Q33334349-665494AB-FF54-406F-BE9B-036EB0B0678A
Q33334349-665494AB-FF54-406F-BE9B-036EB0B0678A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33334349-665494AB-FF54-406F-BE9B-036EB0B0678A
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
P2860
Q33334349-665494AB-FF54-406F-BE9B-036EB0B0678A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33334349-665494AB-FF54-406F-BE9B-036EB0B0678A
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Statement
wasDerivedFrom
4fd05ed292320f4ba47a56339c87e351b762fa3e
P2860
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.