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- source_evidence_literature type ECO_0000212 NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_assertion description "[De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_assertion evidence source_evidence_literature NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_assertion SIO_000772 21706002 NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_assertion wasDerivedFrom befree-2016 NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_assertion wasGeneratedBy ECO_0000203 NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.
- befree-2016 importedOn "2016-02-19" NP905049.RA7tqZnw_tjEwL0qZYV3tSduWbuWtLVKXHXnj63-4GBH4130_provenance.