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1
Q51362886-7A4E9650-ADBD-41FA-AC05-522C3E538774
Q51362886-7A4E9650-ADBD-41FA-AC05-522C3E538774
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51362886-7A4E9650-ADBD-41FA-AC05-522C3E538774
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
P50
Q51362886-7A4E9650-ADBD-41FA-AC05-522C3E538774
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51362886-7A4E9650-ADBD-41FA-AC05-522C3E538774
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
495b8e31978a1075dad11816218f1c964c6c9753
P1545
5
http://www.w3.org/2001/XMLSchema#string
P50
Jean-Michel Liet