Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion> ?p ?o ?g. }
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- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion type Assertion NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_head.
- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion description "[Fragile X Syndrome (FXS), the most common inherited form of mental retardation, is caused by expansion of a CGG/CCG repeat tract in the 5'-untranslated region of the fragile X mental retardation (FMR1) gene, which changes the functional organization of the gene from euchromatin to heterochromatin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_provenance.
- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion evidence source_evidence_literature NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_provenance.
- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion SIO_000772 24261641 NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_provenance.
- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion wasDerivedFrom befree-2016 NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_provenance.
- NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_assertion wasGeneratedBy ECO_0000203 NP1130298.RA85mIddzfQiLFb3uXKdKmUHNCHZslpTfUaZlhWhGIif0130_provenance.