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Q51158820-1D126693-1676-44B2-9EA5-6D93A5FD392D
Q51158820-1D126693-1676-44B2-9EA5-6D93A5FD392D
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http://www.wikidata.org/entity/statement/Q51158820-1D126693-1676-44B2-9EA5-6D93A5FD392D
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
P2860
Q51158820-1D126693-1676-44B2-9EA5-6D93A5FD392D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51158820-1D126693-1676-44B2-9EA5-6D93A5FD392D
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wasDerivedFrom
33180124bff4e3ca3d54bcb0c98fdfbfea34aa9c
P2860
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.