Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion evidence source_evidence_literature NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion SIO_000772 16343967 NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion wasDerivedFrom befree-20140225 NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion wasGeneratedBy ECO_0000203 NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.