Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion type Assertion NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_head.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion wasGeneratedBy ECO_0000203 NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_provenance.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion wasDerivedFrom befree-2016 NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_provenance.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion SIO_000772 21934280 NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_provenance.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion evidence source_evidence_literature NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_provenance.
- NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_assertion description "[Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925212.RAl-HlsD3iIeSrgyDIY4mamGvjU9kszjneV5cmv0mjMT0130_provenance.