Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion> ?p ?o ?g. }
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- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion type Assertion NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_head.
- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion description "[Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_provenance.
- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion evidence source_evidence_literature NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_provenance.
- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion SIO_000772 10678662 NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_provenance.
- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion wasDerivedFrom befree-20150227 NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_provenance.
- NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_assertion wasGeneratedBy ECO_0000203 NP319393.RAbruH24DUex7wZRlzZf3MXP7Moq9nQzkZvTuNOoQV1dE130_provenance.