Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

Many rare monogenic diseases are known to be caused by deleterious variants in thousands of genes, however the same variants can also be found in people without the associated clinical phenotypes. The penetrance of these monogenic variants is generally unknown in the wider population, as they are ty...

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Detalles Bibliográficos
Autores principales: Kingdom, Rebecca, Tuke, Marcus, Wood, Andrew, Beaumont, Robin N., Frayling, Timothy M., Weedon, Michael N., Wright, Caroline F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300873/
https://www.ncbi.nlm.nih.gov/pubmed/35700724
http://dx.doi.org/10.1016/j.ajhg.2022.05.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300873/
https://www.ncbi.nlm.nih.gov/pubmed/35700724
http://dx.doi.org/10.1016/j.ajhg.2022.05.011

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