Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_assertion description "[Introduction of a single ectopia lentis-causing amino acid substitution (E2447K; one-letter symbols for amino acids) in a calcium-binding epidermal growth factor-like domain, predicted to disrupt calcium binding, markedly altered the pattern of C-terminal fibrillin-1 degradation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_assertion evidence source_evidence_literature NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_assertion SIO_000772 10229672 NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_assertion wasDerivedFrom befree-2016 NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_assertion wasGeneratedBy ECO_0000203 NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.
- befree-2016 importedOn "2016-02-19" NP251775.RA7kyfjEXCudgBshm8Mp90EQe3Ov4ROtDKb84Y-C1OvRE130_provenance.