A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
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| Title: | A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family. |
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| Authors: | Shahid H; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Shakoor N; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Bibi A; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Qazi AS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Saeed RF; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Nawaz A; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Malik S; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Mumtaz S; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan. |
| Source: | The Yale journal of biology and medicine [Yale J Biol Med] 2023 Sep 29; Vol. 96 (3), pp. 383-396. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: Yale Journal of Biology and Medicine Country of Publication: United States NLM ID: 0417414 Publication Model: eCollection Cited Medium: Internet ISSN: 1551-4056 (Electronic) Linking ISSN: 00440086 NLM ISO Abbreviation: Yale J Biol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37781000 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Shahid+H%22">Shahid H</searchLink>; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Shakoor+N%22">Shakoor N</searchLink>; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Bibi+A%22">Bibi A</searchLink>; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Qazi+AS%22">Qazi AS</searchLink>; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Saeed+RF%22">Saeed RF</searchLink>; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Nawaz+A%22">Nawaz A</searchLink>; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Malik+S%22">Malik S</searchLink>; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mumtaz+S%22">Mumtaz S</searchLink>; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220417414%22">The Yale journal of biology and medicine</searchLink> [Yale J Biol Med] 2023 Sep 29; Vol. 96 (3), pp. 383-396. <i>Date of Electronic Publication: </i>2023 Sep 29 (<i>Print Publication: </i>2023). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Yale+Journal+of+Biology+and+Medicine%22">Yale Journal of Biology and Medicine </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0417414 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1551-4056 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200440086%22">00440086 </searchLink><i>NLM ISO Abbreviation: </i>Yale J Biol Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37781000 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.59249/UTCP9818 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 383 Titles: – TitleFull: A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Shahid H – PersonEntity: Name: NameFull: Shakoor N – PersonEntity: Name: NameFull: Bibi A – PersonEntity: Name: NameFull: Qazi AS – PersonEntity: Name: NameFull: Saeed RF – PersonEntity: Name: NameFull: Nawaz A – PersonEntity: Name: NameFull: Malik S – PersonEntity: Name: NameFull: Mumtaz S IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 09 Text: 2023 Sep 29 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1551-4056 Numbering: – Type: volume Value: 96 – Type: issue Value: 3 Titles: – TitleFull: The Yale journal of biology and medicine Type: main |
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