Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes

Within recent years, there has been a growing number of genes associated with amyotrophic lateral sclerosis (ALS), resulting in an increasing number of novel variants, particularly missense variants, many of which are of unknown clinical significance. Here, we leverage the sequencing efforts of the...

Descripción completa

Detalles Bibliográficos
Autores principales: Dilliott, Allison A, Kwon, Seulki, Rouleau, Guy A, Iqbal, Sumaiya, Farhan, Sali M K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629772/
https://www.ncbi.nlm.nih.gov/pubmed/37394881
http://dx.doi.org/10.1093/brain/awad224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629772/
https://www.ncbi.nlm.nih.gov/pubmed/37394881
http://dx.doi.org/10.1093/brain/awad224

Ejemplares similares