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Q34151916-CCEB8DE6-4B19-4B57-A600-CB90B9BA3359
Q34151916-CCEB8DE6-4B19-4B57-A600-CB90B9BA3359
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34151916-CCEB8DE6-4B19-4B57-A600-CB90B9BA3359
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
P2860
Q34151916-CCEB8DE6-4B19-4B57-A600-CB90B9BA3359
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34151916-CCEB8DE6-4B19-4B57-A600-CB90B9BA3359
rank
NormalRank
type
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wasDerivedFrom
c06fdeaa05f5f61e64fb4af5b15f2e4a2c7d8001
P2860
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.