Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion> ?p ?o ?g. }
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- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion type Assertion NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_head.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion description "[A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion evidence source_evidence_literature NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion SIO_000772 22842076 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion wasDerivedFrom befree-20140225 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion wasGeneratedBy ECO_0000203 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.