Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion> ?p ?o ?g. }
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- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion type Assertion NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_head.
- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion description "[Ataxia telangiectasia-like syndrome (ATLD) is a more recently recognized condition due to homozygous mutation in MRE11, a gene also involved in the cellular repair response to double-stranded DNA breaks; ophthalmic features of ATLD are not well described.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_provenance.
- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion evidence source_evidence_literature NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_provenance.
- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion SIO_000772 18083591 NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_provenance.
- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion wasDerivedFrom befree-20140225 NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_provenance.
- NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_assertion wasGeneratedBy ECO_0000203 NP440286.RARjel1mNAs_pXolDNaHDJcorme9KqAlpIoIVMaIORu1E130_provenance.