Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion> ?p ?o ?g. }
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- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion type Assertion NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_head.
- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion description "[Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_provenance.
- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion evidence source_evidence_literature NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_provenance.
- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion SIO_000772 10986043 NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_provenance.
- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion wasDerivedFrom befree-2016 NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_provenance.
- NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_assertion wasGeneratedBy ECO_0000203 NP294996.RAeYWLtDo47RvtAvZMmv8Hq-EYWSAgHRLuVJDovoqWdj0130_provenance.