Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion> ?p ?o ?g. }
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- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion type Assertion NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_head.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion description "[Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion evidence source_evidence_literature NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion SIO_000772 15467982 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion wasDerivedFrom befree-20140225 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.
- NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_assertion wasGeneratedBy ECO_0000203 NP750063.RA3_dNiJDA6PshnEL9GC4yeI6Gc5D4Rr1Uvo-misqaD7U130_provenance.