Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance

Hundreds of LMNA variants have been associated with several distinct disease phenotypes. However, genotype–phenotype relationships remain largely undefined and the impact for most variants remains unknown. We performed a functional analysis for 178 variants across five structural domains using two d...

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Detalles Bibliográficos
Autores principales: Anderson, Corey L., Langer, Emma R., Routes, Timothy C., McWilliams, Seamus F., Bereslavskyy, Igor, Kamp, Timothy J., Eckhardt, Lee L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642518/
https://www.ncbi.nlm.nih.gov/pubmed/34862408
http://dx.doi.org/10.1038/s41525-021-00265-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642518/
https://www.ncbi.nlm.nih.gov/pubmed/34862408
http://dx.doi.org/10.1038/s41525-021-00265-x

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