Matches in Nanopublications for { ?s ?p "[a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP145080.RAOcncjNfRQUpslqjXtVDpj-j71oil7Wz2-k8vZbHlba8130_assertion description "[a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145080.RAOcncjNfRQUpslqjXtVDpj-j71oil7Wz2-k8vZbHlba8130_provenance.
- NP200417.RAcPSCUP0QesfHv9Qd6PhEuV8Si7F33oZ6JT-9pmnA8pI130_assertion description "[a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP200417.RAcPSCUP0QesfHv9Qd6PhEuV8Si7F33oZ6JT-9pmnA8pI130_provenance.