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Q24609805-21595D9C-E6EE-4B08-9B4E-F7C1F20D07E2
Q24609805-21595D9C-E6EE-4B08-9B4E-F7C1F20D07E2
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Statement
http://www.wikidata.org/entity/statement/Q24609805-21595D9C-E6EE-4B08-9B4E-F7C1F20D07E2
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
P2860
Q24609805-21595D9C-E6EE-4B08-9B4E-F7C1F20D07E2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24609805-21595D9C-E6EE-4B08-9B4E-F7C1F20D07E2
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Statement
wasDerivedFrom
d4e5aba8e6d14cbfe65fb545a5a81809e7ed4c5a
P2860
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement