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Q52123106-8728CEB8-7CB0-43E0-8727-19D258F4BF84
Q52123106-8728CEB8-7CB0-43E0-8727-19D258F4BF84
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Statement
http://www.wikidata.org/entity/statement/Q52123106-8728CEB8-7CB0-43E0-8727-19D258F4BF84
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
P2860
Q52123106-8728CEB8-7CB0-43E0-8727-19D258F4BF84
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52123106-8728CEB8-7CB0-43E0-8727-19D258F4BF84
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wasDerivedFrom
ede40a2c60f5705543cdf1db1c6ee1e7e506a940
P2860
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.