Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
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| Title: | Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. |
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| Authors: | Bansal V; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States.; Institute of Genomic Medicine, University of California San Diego, La Jolla, CA, United States., Winkelmann BR; ClinPhenomics, Frankfurt am Main, Germany., Dietrich JW; Diabetes, Endocrinology and Metabolism Section, Department of Internal Medicine I, St. Josef Hospital, Ruhr University Hospitals, Bochum, Germany.; Diabetes Center Bochum-Hattingen, St. Elisabeth-Hospital Blankenstein, Hattingen, Germany.; Center for Rare Endocrine Diseases, Ruhr Center for Rare Diseases (CeSER), Ruhr University Bochum and Witten/Herdecke University, Bochum, Germany.; Center for Diabetes Technology, Catholic Hospitals Bochum, Bochum, Germany., Boehm BO; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Feb 20; Vol. 15, pp. 1258982. Date of Electronic Publication: 2024 Feb 20 (Print Publication: 2024). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38444585 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bansal+V%22">Bansal V</searchLink>; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States.; Institute of Genomic Medicine, University of California San Diego, La Jolla, CA, United States.<br /><searchLink fieldCode="AU" term="%22Winkelmann+BR%22">Winkelmann BR</searchLink>; ClinPhenomics, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Dietrich+JW%22">Dietrich JW</searchLink>; Diabetes, Endocrinology and Metabolism Section, Department of Internal Medicine I, St. Josef Hospital, Ruhr University Hospitals, Bochum, Germany.; Diabetes Center Bochum-Hattingen, St. Elisabeth-Hospital Blankenstein, Hattingen, Germany.; Center for Rare Endocrine Diseases, Ruhr Center for Rare Diseases (CeSER), Ruhr University Bochum and Witten/Herdecke University, Bochum, Germany.; Center for Diabetes Technology, Catholic Hospitals Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Boehm+BO%22">Boehm BO</searchLink>; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2024 Feb 20; Vol. 15, pp. 1258982. <i>Date of Electronic Publication: </i>2024 Feb 20 (<i>Print Publication: </i>2024). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101555782 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2392 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642392%22">16642392 </searchLink><i>NLM ISO Abbreviation: </i>Front Endocrinol (Lausanne) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38444585 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fendo.2024.1258982 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1258982 Titles: – TitleFull: Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bansal V – PersonEntity: Name: NameFull: Winkelmann BR – PersonEntity: Name: NameFull: Dietrich JW – PersonEntity: Name: NameFull: Boehm BO IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 02 Text: 2024 Feb 20 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1664-2392 Numbering: – Type: volume Value: 15 Titles: – TitleFull: Frontiers in endocrinology Type: main |
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