Matches in Nanopublications for { ?s ?p "[A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP485701.RAyiArbiWbcSgDBHdLqr41G5JRN098OE4Ps1cgSZeK0ps130_assertion description "[A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP485701.RAyiArbiWbcSgDBHdLqr41G5JRN098OE4Ps1cgSZeK0ps130_provenance.
- NP353189.RAZUEW6hqO9y63n9oRHSd-Eewjnk2TlQQTZSpQ9EZwlf4130_assertion description "[A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353189.RAZUEW6hqO9y63n9oRHSd-Eewjnk2TlQQTZSpQ9EZwlf4130_provenance.
- NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_assertion description "[A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP520537.RA0zduvlLdw9N3UA6mEs0dshQZePKjQ986w7WoFNhsD28130_provenance.