Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion type Assertion NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_head.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion description "[Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion evidence source_evidence_literature NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion SIO_000772 25524324 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion wasDerivedFrom befree-2016 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.
- NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_assertion wasGeneratedBy ECO_0000203 NP1249436.RAOS17uDe3M10r7tU0eoSRJXZmXms6D8eFRMbQQ_heKAw130_provenance.