Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion> ?p ?o ?g. }
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- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion type Assertion NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_head.
- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion description "[Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear, with the duplication reported in individuals with abnormal phenotypes and normal relatives.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_provenance.
- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion evidence source_evidence_literature NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_provenance.
- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion SIO_000772 21739574 NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_provenance.
- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion wasDerivedFrom befree-20150227 NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_provenance.
- NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_assertion wasGeneratedBy ECO_0000203 NP253297.RAMAFXG5RVT96FYid0vSK6N2tepUeYsZ0aMMAkVJdDBo0130_provenance.