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- source_evidence_literature type ECO_0000212 NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_assertion description "[The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_assertion evidence source_evidence_literature NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_assertion SIO_000772 11595972 NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_assertion wasDerivedFrom befree-2016 NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_assertion wasGeneratedBy ECO_0000203 NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.
- befree-2016 importedOn "2016-02-19" NP332859.RAbLgOm-r1OTMEX40Pibhx25Ta_0qDeW08hGNcdzONyhE130_provenance.