Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion> ?p ?o ?g. }
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- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion type Assertion NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_head.
- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion wasGeneratedBy ECO_0000203 NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_provenance.
- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion wasDerivedFrom befree-20140225 NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_provenance.
- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion SIO_000772 17262014 NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_provenance.
- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion evidence source_evidence_literature NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_provenance.
- NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_assertion description "[The autosomal recessive form of congenital hereditary endothelial dystrophy (CHED2) is a rare eye disorder caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658873.RAr08lKmU7ZRMKfh_Ww5N2esJfr1r670kjQ6141eW643Y130_provenance.