Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion description "[With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion evidence source_evidence_literature NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion SIO_000772 22766003 NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion wasDerivedFrom befree-20150227 NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_assertion wasGeneratedBy ECO_0000203 NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.
- befree-20150227 importedOn "2015-02-27" NP696337.RA9HWeoOaw5g7n6dN1TaJpBiSICoOkVjK8r1Xj7Kwv20k130_provenance.