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Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
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| Published in: | Journal of Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2025
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| Subjects: | |
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| _version_ | 1864030189131923457 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Journal of Genetics |
| description | |
| discipline_display | Life Sciences & Biology |
| discipline_facet | Life Sciences & Biology |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:28856 |
| institution | FRELIP |
| journal_source_facet | Journal of Genetics |
| publishDate | 2025 |
| publishDateSort | 2025 |
| record_format | rss_article |
| spellingShingle | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| sub_discipline_display | Biological Sciences |
| sub_discipline_facet | Biological Sciences |
| subject_display | — — — — — — Genetics Biological Sciences Life Sciences & Biology — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| subject_facet | — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| title | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_auth | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_full | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_fullStr | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_full_unstemmed | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_short | Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population |
| title_sort | genetic analysis in a consanguineous mcph family revealed a refinement of the mcph12 locus and a founder effect of the recurrent variant [c.589g>a, p.(ala197thr)] in the pakistani population |
| topic | — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| url | https://link.springer.com/article/10.1007/s12041-025-01505-0 |