Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_assertion description "[By sequencing the whole exome of three patients in a Chinese four-generation dominant CCMC family (Family A), three heterozygous missense mutation (c.115C>G, c.277G>A, and c.4393G>A) were identified in ATP-binding cassette protein A3 (ABCA3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_assertion evidence source_evidence_literature NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_assertion SIO_000772 25406294 NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_assertion wasDerivedFrom befree-2016 NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_assertion wasGeneratedBy ECO_0000203 NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1238345.RA46ybqeCPBrB7jKQRkyDUPmHjwFaY4f3kbMlVcPmrjU0130_provenance.