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Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2
Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2
BestRank
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http://www.wikidata.org/entity/statement/Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
P2860
Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2
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type
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wasDerivedFrom
8e38c766d5ef0d55102235dd13fcc3a73979f253
P2860
Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.