Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion> ?p ?o ?g. }
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- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion type Assertion NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_head.
- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion description "[A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_provenance.
- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion evidence source_evidence_literature NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_provenance.
- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion SIO_000772 22559933 NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_provenance.
- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion wasDerivedFrom befree-20140225 NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_provenance.
- NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_assertion wasGeneratedBy ECO_0000203 NP505987.RAPtD6GX_6M90_nVh1-MuXWklIlRAUn_aa3FHJLW5qngk130_provenance.