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Q37518635-3DD55CDB-8254-4B65-9C25-946F645F28C9
Q37518635-3DD55CDB-8254-4B65-9C25-946F645F28C9
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http://www.wikidata.org/entity/statement/Q37518635-3DD55CDB-8254-4B65-9C25-946F645F28C9
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
P2860
Q37518635-3DD55CDB-8254-4B65-9C25-946F645F28C9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37518635-3DD55CDB-8254-4B65-9C25-946F645F28C9
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type
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wasDerivedFrom
df40062e166f07e003a5042f6fd32168f91f1a5d
P2860
The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome.