Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion> ?p ?o ?g. }
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- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion type Assertion NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_head.
- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion description "[The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_provenance.
- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion evidence source_evidence_literature NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_provenance.
- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion SIO_000772 16684786 NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_provenance.
- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion wasDerivedFrom befree-20140225 NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_provenance.
- NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_assertion wasGeneratedBy ECO_0000203 NP380906.RAnjPa1pfHZ5ukCw-GSC0rVmf9woQ8PPVyOP9JCNaACSs130_provenance.