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Q41580069-18F2F8B4-77BF-4412-881F-AD07B136E4BE
Q41580069-18F2F8B4-77BF-4412-881F-AD07B136E4BE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41580069-18F2F8B4-77BF-4412-881F-AD07B136E4BE
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
P2860
Q41580069-18F2F8B4-77BF-4412-881F-AD07B136E4BE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41580069-18F2F8B4-77BF-4412-881F-AD07B136E4BE
rank
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type
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Statement
wasDerivedFrom
866c1387d324246f7195ab3066d89b291c580740
P2860
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement