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Q40977010-3B517F4F-7E38-4BD4-A6C0-D0753850D36C
Q40977010-3B517F4F-7E38-4BD4-A6C0-D0753850D36C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40977010-3B517F4F-7E38-4BD4-A6C0-D0753850D36C
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling
P2860
Q40977010-3B517F4F-7E38-4BD4-A6C0-D0753850D36C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40977010-3B517F4F-7E38-4BD4-A6C0-D0753850D36C
rank
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type
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Statement
wasDerivedFrom
900ec7ed0dd4c8f2d96851bd2cff7b6c6bac3577
P2860
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.