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Q36083722-D1D4E38A-3594-416D-8BEE-F693F5EFD46A
Q36083722-D1D4E38A-3594-416D-8BEE-F693F5EFD46A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36083722-D1D4E38A-3594-416D-8BEE-F693F5EFD46A
Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
P932
Q36083722-D1D4E38A-3594-416D-8BEE-F693F5EFD46A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36083722-D1D4E38A-3594-416D-8BEE-F693F5EFD46A
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bc3ba0477c66425093f11d4393a797472d183967
P932
4579110
http://www.w3.org/2001/XMLSchema#string