A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

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Title: A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Authors: Chepurwar S; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany., von Loh SM; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany., Wigger DC; Institute of Human Genetics, University of Ulm, Ulm 89081, Germany., Neef J; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany., Frommolt P; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany., Beutner D; Department of Otorhinolaryngology, Head and Neck Surgery, Göttingen University Medical Center, Göttingen 37075, Germany.; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne 50931, Germany., Lang-Roth R; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne 50931, Germany., Kubisch C; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany., Strenzke N; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany., Volk AE; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.
Source: Human molecular genetics [Hum Mol Genet] 2023 Mar 20; Vol. 32 (7), pp. 1083-1089.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
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  Data: <searchLink fieldCode="AU" term="%22Chepurwar+S%22">Chepurwar S</searchLink>; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22von+Loh+SM%22">von Loh SM</searchLink>; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.<br /><searchLink fieldCode="AU" term="%22Wigger+DC%22">Wigger DC</searchLink>; Institute of Human Genetics, University of Ulm, Ulm 89081, Germany.<br /><searchLink fieldCode="AU" term="%22Neef+J%22">Neef J</searchLink>; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Frommolt+P%22">Frommolt P</searchLink>; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.<br /><searchLink fieldCode="AU" term="%22Beutner+D%22">Beutner D</searchLink>; Department of Otorhinolaryngology, Head and Neck Surgery, Göttingen University Medical Center, Göttingen 37075, Germany.; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne 50931, Germany.<br /><searchLink fieldCode="AU" term="%22Lang-Roth+R%22">Lang-Roth R</searchLink>; Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne 50931, Germany.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.<br /><searchLink fieldCode="AU" term="%22Strenzke+N%22">Strenzke N</searchLink>; Institute for Auditory Neuroscience and SFB889, Göttingen University Medical Center, Göttingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Volk+AE%22">Volk AE</searchLink>; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2023 Mar 20; Vol. 32 (7), pp. 1083-1089.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1093/hmg/ddac267
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        Text: English
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              Text: 2023 Mar 20
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