Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion> ?p ?o ?g. }
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- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion type Assertion NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_head.
- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion description "[To our knowledge, we report the first molecular confirmation of postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_provenance.
- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion evidence source_evidence_literature NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_provenance.
- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion SIO_000772 21931045 NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_provenance.
- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion wasDerivedFrom befree-20140225 NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_provenance.
- NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_assertion wasGeneratedBy ECO_0000203 NP601950.RA895SsWgGa04XfZpR3sCaZsuRDNaI3nVtf0JDiZCxEE0130_provenance.