Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion> ?p ?o ?g. }
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- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion type Assertion NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_head.
- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion description "[We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_provenance.
- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion evidence source_evidence_literature NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_provenance.
- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion SIO_000772 9415694 NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_provenance.
- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion wasDerivedFrom befree-20140225 NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_provenance.
- NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_assertion wasGeneratedBy ECO_0000203 NP604980.RAMw_tvW8uUYZKWr4K_acGVtuksD_EghvmXe4ZfBkhuFg130_provenance.