Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion> ?p ?o ?g. }
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- NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_assertion type Assertion NP1230451.RAG2bUPur9dNw5gGWjNtZLr5OSFvuPkZMkWybOPVsbWGQ130_head.
- 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.