Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion> ?p ?o ?g. }
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- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion type Assertion NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_head.
- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion description "[Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_provenance.
- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion evidence source_evidence_literature NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_provenance.
- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion SIO_000772 22885700 NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_provenance.
- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion wasDerivedFrom befree-20150227 NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_provenance.
- NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_assertion wasGeneratedBy ECO_0000203 NP793325.RA1gWpcxVWfRgCyV39RuGhfbf5YWRujpaYglc8qSs6SzU130_provenance.