Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion> ?p ?o ?g. }
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- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion type Assertion NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_head.
- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion description "[A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_provenance.
- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion evidence source_evidence_literature NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_provenance.
- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion SIO_000772 10502831 NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_provenance.
- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion wasDerivedFrom befree-2016 NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_provenance.
- NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_assertion wasGeneratedBy ECO_0000203 NP264339.RANmVSq51PavbTGP8jkwqdPg9p8a8zedd6-JvcxcwYCRE130_provenance.