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Q48307234-E72AD53A-E308-492B-B0A6-D3716EC76AFA
Q48307234-E72AD53A-E308-492B-B0A6-D3716EC76AFA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48307234-E72AD53A-E308-492B-B0A6-D3716EC76AFA
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
P2860
Q48307234-E72AD53A-E308-492B-B0A6-D3716EC76AFA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48307234-E72AD53A-E308-492B-B0A6-D3716EC76AFA
rank
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Statement
wasDerivedFrom
a1c5048f1e2ac4fc6bddcc987f8aca16f9e2aa12
P2860
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.