Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion type Assertion NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_head.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion description "[Clinical reanalysis indicated co-ocurrence of two different phenotypes in the same family: Bardet-Biedl syndrome in the individual harboring the BBS1 mutation and non-syndromic arRP in extended family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion evidence source_evidence_literature NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion SIO_000772 25494902 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion wasDerivedFrom befree-2016 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion wasGeneratedBy ECO_0000203 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.