The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Genetic diseases have been historically segregated into rare Mendelian disorders and common complex conditions. Large-scale studies using genome sequencing are eroding this distinction and are gradually unmasking the underlying complexity of human traits. Here, we analysed data from the Genomics Eng...

Descripción completa

Detalles Bibliográficos
Autores principales: Michaud, Vincent, Lasseaux, Eulalie, Green, David J., Gerrard, Dave T., Plaisant, Claudio, Fitzgerald, Tomas, Birney, Ewan, Arveiler, Benoît, Black, Graeme C., Sergouniotis, Panagiotis I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270319/
https://www.ncbi.nlm.nih.gov/pubmed/35803923
http://dx.doi.org/10.1038/s41467-022-31392-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270319/
https://www.ncbi.nlm.nih.gov/pubmed/35803923
http://dx.doi.org/10.1038/s41467-022-31392-3

Ejemplares similares