Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion type Assertion NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_head.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion description "[A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_provenance.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion evidence source_evidence_literature NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_provenance.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion SIO_000772 10053006 NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_provenance.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion wasDerivedFrom befree-2016 NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_provenance.
- NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_assertion wasGeneratedBy ECO_0000203 NP246830.RAIA06IJEs6It7iToCELMqG-9EAqXLAfR1Cj6miQT-N9A130_provenance.