Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion> ?p ?o ?g. }
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- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion type Assertion NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_head.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion description "[Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion evidence source_evidence_literature NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion SIO_000772 22019273 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion wasDerivedFrom befree-20140225 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.
- NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_assertion wasGeneratedBy ECO_0000203 NP505229.RA8yEetDiGE7nxKLqaD5xu_zdILSQu_ehtU5TkxEEdbSo130_provenance.