Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion> ?p ?o ?g. }
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- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion type Assertion NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_head.
- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion description "[Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_provenance.
- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion evidence source_evidence_literature NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_provenance.
- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion SIO_000772 17273969 NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_provenance.
- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion wasDerivedFrom befree-2016 NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_provenance.
- NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_assertion wasGeneratedBy ECO_0000203 NP592058.RA46RS_AROL7hTT16iQaYG2uuUSM6fhqcdIL_-jRpwtYo130_provenance.