Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion> ?p ?o ?g. }
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- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion type Assertion NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_head.
- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion description "[A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_provenance.
- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion evidence source_evidence_literature NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_provenance.
- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion SIO_000772 7945197 NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_provenance.
- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion wasDerivedFrom befree-2016 NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_provenance.
- NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_assertion wasGeneratedBy ECO_0000203 NP1327719.RARkiHhKy4kpi2EK_BIUctXwoxe7uJMCf-dIP2VY9jco4130_provenance.