Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion> ?p ?o ?g. }
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- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion type Assertion NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_head.
- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion description "[Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_provenance.
- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion evidence source_evidence_literature NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_provenance.
- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion SIO_000772 10745044 NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_provenance.
- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion wasDerivedFrom befree-2016 NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_provenance.
- NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_assertion wasGeneratedBy ECO_0000203 NP279804.RANrxENa8oEhIi2-GCJPO1GfFcAFrXw2gbK8FyaT0QmfE130_provenance.