Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion type Assertion NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_head.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion description "[Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion evidence source_evidence_literature NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion SIO_000772 10721668 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion wasDerivedFrom befree-20150227 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion wasGeneratedBy ECO_0000203 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.