Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion> ?p ?o ?g. }
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- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion type Assertion NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_head.
- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion description "[We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_provenance.
- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion evidence source_evidence_literature NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_provenance.
- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion SIO_000772 19481194 NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_provenance.
- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion wasDerivedFrom befree-20140225 NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_provenance.
- NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_assertion wasGeneratedBy ECO_0000203 NP913680.RAdutt-uJ_4PiYZnfNOMMfuFcwNH-NwOm3gh7WAmGquDE130_provenance.