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- source_evidence_literature type ECO_0000212 NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_assertion description "[Of the 97 amino acid substitutions, 11 occurred at a frequency that made them unlikely to be high-penetrance recessive disease-causing variants (HPRDCV). After accounting for variants in cis, one or more changes that were compatible with HPRDCV were found]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_assertion evidence source_evidence_literature NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_assertion SIO_000772 11328725 NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_assertion wasDerivedFrom gad-20150221 NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_assertion wasGeneratedBy ECO_0000203 NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.
- gad-20150221 importedOn "2015-02-21" NP69949.RAYGQvPnjwHdfiv_glnwUrZx5zJQqI4UfzETa38SMpx8I130_provenance.