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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| ISSN: | 0973-7731 |
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