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- source_evidence_literature type ECO_0000212 NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_assertion description "[In the remaining 5 individuals with PCD who underwent exome sequencing, we identified mutations in two genes (DNAI2, DNAH5) known to cause PCD, including an Ashkenazi Jewish founder mutation in DNAI2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_assertion evidence source_evidence_literature NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_assertion SIO_000772 23261302 NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_assertion wasDerivedFrom befree-20150227 NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_assertion wasGeneratedBy ECO_0000203 NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP356122.RA5ec7QS0hUtgCeX4Y9WQmpdXd195OS_XXib571ZeA-j4130_provenance.