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Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668
Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
P2860
Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ccbe9df127984ab19f97ebfa0b9ae7c02ef5dd7c
P2860
Coffin-Siris syndrome.