Matches in Nanopublications for { ?s ?p "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance.
- assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.
- NP845120.RALvSQVOqiuRvM--K92QzqIRDDi5JhlVTsTmwIt3D7qio130_assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP845120.RALvSQVOqiuRvM--K92QzqIRDDi5JhlVTsTmwIt3D7qio130_provenance.