Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion> ?p ?o ?g. }
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- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion type Assertion NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_head.
- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion wasGeneratedBy ECO_0000203 NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_provenance.
- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion wasDerivedFrom befree-20150227 NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_provenance.
- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion SIO_000772 18786550 NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_provenance.
- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion evidence source_evidence_literature NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_provenance.
- NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_assertion description "[Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3, whereas the causative gene in Roberts syndrome and SC Phocomelia has been identified as ESCO2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP976674.RABISmt5XT5Yp85GibA7rjeLHcm-Lny4kE7OkX0Ry9O70130_provenance.