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Q36277070-09CFD902-A983-4089-9771-A780A35619FB
Q36277070-09CFD902-A983-4089-9771-A780A35619FB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36277070-09CFD902-A983-4089-9771-A780A35619FB
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
P2860
Q36277070-09CFD902-A983-4089-9771-A780A35619FB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36277070-09CFD902-A983-4089-9771-A780A35619FB
rank
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type
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Statement
wasDerivedFrom
3ae299fc3ef616638f472b7679cce01b470edfeb
P2860
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement