Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion> ?p ?o ?g. }
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- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion type Assertion NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_head.
- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion description "[We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_provenance.
- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion evidence source_evidence_literature NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_provenance.
- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion SIO_000772 20503325 NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_provenance.
- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion wasDerivedFrom befree-2016 NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_provenance.
- NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_assertion wasGeneratedBy ECO_0000203 NP814801.RADoeBTrpJneNxw0JwaVOx3Xw1N6abWR2gZMPNe6bTmFc130_provenance.