Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_assertion description "[In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_assertion evidence source_evidence_literature NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_assertion SIO_000772 18801879 NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_assertion wasDerivedFrom befree-20140225 NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_assertion wasGeneratedBy ECO_0000203 NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP165886.RABy95a-kHkROvIkjuGktKpSJCcXAzKJms3mbtHnoF4UU130_provenance.