Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion> ?p ?o ?g. }
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- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion type Assertion NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_head.
- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion description "[Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_provenance.
- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion evidence source_evidence_literature NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_provenance.
- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion SIO_000772 26721046 NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_provenance.
- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion wasDerivedFrom befree-2016 NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_provenance.
- NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_assertion wasGeneratedBy ECO_0000203 NP1295854.RAO1YIZi294dDcZbG2d5RC5igNm6M0R6MUwaV2s-1fyG4130_provenance.