Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion> ?p ?o ?g. }
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- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion type Assertion NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_head.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_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." NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion evidence source_evidence_literature NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion SIO_000772 16343967 NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion wasDerivedFrom befree-20140225 NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion wasGeneratedBy ECO_0000203 NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.