Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion> ?p ?o ?g. }
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- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion type Assertion NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_head.
- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion description "[The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance.
- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion evidence source_evidence_literature NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance.
- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion SIO_000772 21735175 NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance.
- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion wasDerivedFrom befree-20140225 NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance.
- NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_assertion wasGeneratedBy ECO_0000203 NP401714.RA79C2Z8uwSjeFXk3JMgNJ0D3jPIdpvmwqzkzWTVys6UM130_provenance.