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The Finnish genetic heritage in 2022 – from diagnosis to translational research
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the populatio...
Autores principales: | Uusimaa, Johanna, Kettunen, Johannes, Varilo, Teppo, Järvelä, Irma, Kallijärvi, Jukka, Kääriäinen, Helena, Laine, Minna, Lapatto, Risto, Myllynen, Päivi, Niinikoski, Harri, Rahikkala, Elisa, Suomalainen, Anu, Tikkanen, Ritva, Tyynismaa, Henna, Vieira, Päivi, Zarybnicky, Tomas, Sipilä, Petra, Kuure, Satu, Hinttala, Reetta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637267/ https://www.ncbi.nlm.nih.gov/pubmed/36285626 http://dx.doi.org/10.1242/dmm.049490 |
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