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Q34211184-3EF96DB3-7160-4CA5-8BBC-B3C9B36104C3
Q34211184-3EF96DB3-7160-4CA5-8BBC-B3C9B36104C3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34211184-3EF96DB3-7160-4CA5-8BBC-B3C9B36104C3
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
P2093
Q34211184-3EF96DB3-7160-4CA5-8BBC-B3C9B36104C3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34211184-3EF96DB3-7160-4CA5-8BBC-B3C9B36104C3
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5c7c970b3079690fc0547585dd4e45900be65732
P1545
5
http://www.w3.org/2001/XMLSchema#string
P2093
Cassiman JJ
http://www.w3.org/2001/XMLSchema#string