Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion description "[We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion evidence source_evidence_literature NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion SIO_000772 16427281 NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion wasDerivedFrom befree-20140225 NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion wasGeneratedBy ECO_0000203 NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance.