Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion> ?p ?o ?g. }
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- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion type Assertion NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_head.
- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion description "[We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_provenance.
- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion evidence source_evidence_literature NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_provenance.
- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion SIO_000772 10852374 NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_provenance.
- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion wasDerivedFrom befree-20140225 NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_provenance.
- NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_assertion wasGeneratedBy ECO_0000203 NP843164.RAX_jPzE0b-rSba9w_8rCGdpXroxPS5gSyIaxplFrCxJ4130_provenance.