Matches in Nanopublications for { ?s ?p "[We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 2 of
2
with 100 items per page.
- assertion description "[We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion description "[We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.