Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion> ?p ?o ?g. }
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- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion type Assertion NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_head.
- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion description "[Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_provenance.
- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion evidence source_evidence_literature NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_provenance.
- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion SIO_000772 23311583 NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_provenance.
- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion wasDerivedFrom befree-2016 NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_provenance.
- NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_assertion wasGeneratedBy ECO_0000203 NP1042901.RASwRBx9fnVqtNIxW_y2AVoC76HJzNBjjnghuPQKct4zs130_provenance.