Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion type Assertion NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_head.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion evidence source_evidence_literature NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion SIO_000772 14614393 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion wasDerivedFrom befree-2016 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion wasGeneratedBy ECO_0000203 NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.