Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion> ?p ?o ?g. }
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- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion type Assertion NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_head.
- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion description "[Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_provenance.
- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion evidence source_evidence_literature NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_provenance.
- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion SIO_000772 23188044 NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_provenance.
- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion wasDerivedFrom befree-20140225 NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_provenance.
- NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_assertion wasGeneratedBy ECO_0000203 NP182819.RAgyppEUJPg_Fdjve_InYy1RgvidN-U0UqLIwz28fBD6Q130_provenance.