Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion> ?p ?o ?g. }
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- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion type Assertion NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_head.
- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_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." NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_provenance.
- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion evidence source_evidence_literature NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_provenance.
- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion SIO_000772 9415694 NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_provenance.
- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion wasDerivedFrom befree-20140225 NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_provenance.
- NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_assertion wasGeneratedBy ECO_0000203 NP439836.RAysZr5kIamJTbaYhDVrRGoV0kBzM0YXr33rgsqmgcAEw130_provenance.