Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion> ?p ?o ?g. }
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- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion type Assertion NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_head.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion evidence source_evidence_literature NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion SIO_000772 10951251 NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion wasDerivedFrom befree-20150227 NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.
- NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_assertion wasGeneratedBy ECO_0000203 NP531305.RA84fUC32ziCSUKwxcNy2Yd1H30Z7i1nwhz3lYFqHyEEA130_provenance.