Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion description "[Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were described for the first time in four individuals with intellectual disability (ID), microcephaly, limited speech and (progressive) spasticity, and functional consequences of CTNNB1 deficiency were characterized in a mouse model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion evidence source_evidence_literature NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion SIO_000772 25326669 NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion wasDerivedFrom befree-2016 NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion wasGeneratedBy ECO_0000203 NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_provenance.