Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion> ?p ?o ?g. }
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- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion type Assertion NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_head.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_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." NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion evidence source_evidence_literature NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion SIO_000772 21931045 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion wasDerivedFrom befree-20150227 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion wasGeneratedBy ECO_0000203 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.