Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion> ?p ?o ?g. }
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- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion type Assertion NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_head.
- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion wasGeneratedBy ECO_0000203 NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_provenance.
- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion wasDerivedFrom befree-20140225 NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_provenance.
- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion SIO_000772 22508754 NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_provenance.
- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion evidence source_evidence_literature NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_provenance.
- NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_assertion description "[Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP693100.RAXR1GmqwI8HIiYQem3gzAv-wAhWMR3DgevajR0y3AJnI130_provenance.