Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion> ?p ?o ?g. }
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- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion type Assertion NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_head.
- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion description "[Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_provenance.
- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion evidence source_evidence_literature NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_provenance.
- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion SIO_000772 11836357 NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_provenance.
- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion wasDerivedFrom befree-20140225 NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_provenance.
- NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_assertion wasGeneratedBy ECO_0000203 NP590710.RA1kTq7BwipEii7Ng8M0hGLZ2Y5t429-6eDxd8Gbzmo98130_provenance.