Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[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."@en ?g. }

• NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_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." NP854441.RAiZudrQJCUeQFCr9t5Wp-VuuwpNaGcDcGc_PL0FXEey4130_provenance.
• NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_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." NP578929.RAc5tlOh-Yh8eqAtD0X3KTaYG9GcXWsWw73fbQ_KHGOxo130_provenance.
• 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." provenance.
• 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." provenance.
• NP225957.RAZiX1G0QLLIqazDzVFcjE_HADhkIFFMVbUAWCwPPVJB0130_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." NP225957.RAZiX1G0QLLIqazDzVFcjE_HADhkIFFMVbUAWCwPPVJB0130_provenance.
• 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.
• NP319332.RAnMCFy_GXUz5x90oD8FNxquCL_wj7cMDzKlAP10gJRwg130_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." NP319332.RAnMCFy_GXUz5x90oD8FNxquCL_wj7cMDzKlAP10gJRwg130_provenance.
• NP319107.RAAvavgeYPeMcmZatjU9Q8laz2Bt853k4cj2I-oKXZDSI130_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." NP319107.RAAvavgeYPeMcmZatjU9Q8laz2Bt853k4cj2I-oKXZDSI130_provenance.
• NP1327720.RAuxB2csWmDE1rTcHX5vXTX2OGxEzV6dQv5hxSPg-5aHg130_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." NP1327720.RAuxB2csWmDE1rTcHX5vXTX2OGxEzV6dQv5hxSPg-5aHg130_provenance.
• NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_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." NP1327718.RA9jSpF2fU-ORiCIAEUPaGwmGNIq3wh2V8GBbtjIsTnF0130_provenance.