Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion> ?p ?o ?g. }
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- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion type Assertion NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_head.
- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion description "[Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_provenance.
- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion evidence source_evidence_literature NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_provenance.
- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion SIO_000772 15629215 NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_provenance.
- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion wasDerivedFrom befree-2016 NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_provenance.
- NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_assertion wasGeneratedBy ECO_0000203 NP474829.RAKnIGvDNpIS2nYToymdI4dtRxDnF86AFM_n4fjASBXfQ130_provenance.