Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.
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| Title: | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population. |
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| Authors: | Khan MA; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria. christian.windpassinger@medunigraz.at., Blatterer J, Kuster M, Kaufmann L, Kroisel PM, Vincent JB, Zubair BM, Muzammal M, Ahmad N, Abbas S, Shah W, Ali MZ, Hussain MS, Thiele H, Nurnberg P, Wagner K, Windpassinger C |
| Source: | Journal of genetics [J Genet] 2025; Vol. 104. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer India in co-publication with Indian Academy of Sciences Country of Publication: India NLM ID: 2985113R Publication Model: Print Cited Medium: Internet ISSN: 0973-7731 (Electronic) Linking ISSN: 00221333 NLM ISO Abbreviation: J Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40801391 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Khan+MA%22">Khan MA</searchLink>; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria. christian.windpassinger@medunigraz.at.<br /><searchLink fieldCode="AU" term="%22Blatterer+J%22">Blatterer J</searchLink><br /><searchLink fieldCode="AU" term="%22Kuster+M%22">Kuster M</searchLink><br /><searchLink fieldCode="AU" term="%22Kaufmann+L%22">Kaufmann L</searchLink><br /><searchLink fieldCode="AU" term="%22Kroisel+PM%22">Kroisel PM</searchLink><br /><searchLink fieldCode="AU" term="%22Vincent+JB%22">Vincent JB</searchLink><br /><searchLink fieldCode="AU" term="%22Zubair+BM%22">Zubair BM</searchLink><br /><searchLink fieldCode="AU" term="%22Muzammal+M%22">Muzammal M</searchLink><br /><searchLink fieldCode="AU" term="%22Ahmad+N%22">Ahmad N</searchLink><br /><searchLink fieldCode="AU" term="%22Abbas+S%22">Abbas S</searchLink><br /><searchLink fieldCode="AU" term="%22Shah+W%22">Shah W</searchLink><br /><searchLink fieldCode="AU" term="%22Ali+MZ%22">Ali MZ</searchLink><br /><searchLink fieldCode="AU" term="%22Hussain+MS%22">Hussain MS</searchLink><br /><searchLink fieldCode="AU" term="%22Thiele+H%22">Thiele H</searchLink><br /><searchLink fieldCode="AU" term="%22Nurnberg+P%22">Nurnberg P</searchLink><br /><searchLink fieldCode="AU" term="%22Wagner+K%22">Wagner K</searchLink><br /><searchLink fieldCode="AU" term="%22Windpassinger+C%22">Windpassinger C</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222985113R%22">Journal of genetics</searchLink> [J Genet] 2025; Vol. 104. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+India+in+co-publication+with+Indian+Academy+of+Sciences%22">Springer India in co-publication with Indian Academy of Sciences </searchLink><i>Country of Publication: </i>India <i>NLM ID: </i>2985113R <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>0973-7731 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200221333%22">00221333 </searchLink><i>NLM ISO Abbreviation: </i>J Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40801391 |
| RecordInfo | BibRecord: BibEntity: Languages: – Code: eng Text: English Titles: – TitleFull: Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Khan MA – PersonEntity: Name: NameFull: Blatterer J – PersonEntity: Name: NameFull: Kuster M – PersonEntity: Name: NameFull: Kaufmann L – PersonEntity: Name: NameFull: Kroisel PM – PersonEntity: Name: NameFull: Vincent JB – PersonEntity: Name: NameFull: Zubair BM – PersonEntity: Name: NameFull: Muzammal M – PersonEntity: Name: NameFull: Ahmad N – PersonEntity: Name: NameFull: Abbas S – PersonEntity: Name: NameFull: Shah W – PersonEntity: Name: NameFull: Ali MZ – PersonEntity: Name: NameFull: Hussain MS – PersonEntity: Name: NameFull: Thiele H – PersonEntity: Name: NameFull: Nurnberg P – PersonEntity: Name: NameFull: Wagner K – PersonEntity: Name: NameFull: Windpassinger C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2025 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 0973-7731 Numbering: – Type: volume Value: 104 Titles: – TitleFull: Journal of genetics Type: main |
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