Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP398360.RAvMEmjhNv04V1YaETT_pH8Gwj-s0h1jHBWghNXAA-W0U#assertion> ?p ?o ?g. }
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- assertion description "[Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11055896 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.