Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion> ?p ?o ?g. }
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- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion type Assertion NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_head.
- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_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." NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_provenance.
- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion evidence source_evidence_literature NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_provenance.
- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion SIO_000772 25524324 NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_provenance.
- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion wasDerivedFrom befree-2016 NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_provenance.
- NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_assertion wasGeneratedBy ECO_0000203 NP1249434.RAblA7avSRf7JCf8r2J9A1d2iJPT72pGq92rxyaiVLYYU130_provenance.