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Q57484322-A7E8A4C0-33CB-4B44-B64F-C5D0148710A0
Q57484322-A7E8A4C0-33CB-4B44-B64F-C5D0148710A0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-A7E8A4C0-33CB-4B44-B64F-C5D0148710A0
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
P2093
Q57484322-A7E8A4C0-33CB-4B44-B64F-C5D0148710A0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-A7E8A4C0-33CB-4B44-B64F-C5D0148710A0
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4c30540ed9f848fc2c2839f1cee643c7476f1750
P1545
11
http://www.w3.org/2001/XMLSchema#string
P2093
Malgorzata Marciniak
http://www.w3.org/2001/XMLSchema#string