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Q37491474-F0A25BCD-25F4-462A-86E1-65B8933D9695
Q37491474-F0A25BCD-25F4-462A-86E1-65B8933D9695
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37491474-F0A25BCD-25F4-462A-86E1-65B8933D9695
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.
P2860
Q37491474-F0A25BCD-25F4-462A-86E1-65B8933D9695
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37491474-F0A25BCD-25F4-462A-86E1-65B8933D9695
rank
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type
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Statement
wasDerivedFrom
59045c8c29b37b02f1e0a600b639b4d10eabc680
P2860
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.