Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion> ?p ?o ?g. }
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- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion type Assertion NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_head.
- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion wasGeneratedBy ECO_0000203 NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_provenance.
- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion wasDerivedFrom befree-20150227 NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_provenance.
- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion SIO_000772 18688873 NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_provenance.
- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion evidence source_evidence_literature NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_provenance.
- NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_assertion description "[The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668359.RAF-p50UYGYtxlM1c8OBvJoQ4iNN8GujpUylOjSanPUTs130_provenance.