Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion> ?p ?o ?g. }
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- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion type Assertion NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_head.
- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion description "[Our data indicate that SMC3 and SMC1A mutations (1) contribute to approximately 5% of cases of CdLS, (2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_provenance.
- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion evidence source_evidence_literature NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_provenance.
- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion SIO_000772 17273969 NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_provenance.
- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion wasDerivedFrom befree-20140225 NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_provenance.
- NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_assertion wasGeneratedBy ECO_0000203 NP222181.RATpomx_XQ5LHQKr4fTFB0k4MSqrEiWfDSUcfleS3pybs130_provenance.