Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion> ?p ?o ?g. }
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- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion type Assertion NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_head.
- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion description "[A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_provenance.
- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion evidence source_evidence_literature NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_provenance.
- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion SIO_000772 25729975 NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_provenance.
- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion wasDerivedFrom befree-2016 NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_provenance.
- NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_assertion wasGeneratedBy ECO_0000203 NP1267360.RABcVP_4Jk2DDq6BGQZe-b3RpeaLEjlAjcdcJboWSiB0c130_provenance.