SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines

Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease whose causes are unclear. The first ALS gene associated with the autosomal dominant form of the disease was SOD1. This gene has a high rate of rare variants, and an appropriate classification is essential for a corre...

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Detalles Bibliográficos
Autores principales: Ruffo, Paola, Perrone, Benedetta, Conforti, Francesca Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955492/
https://www.ncbi.nlm.nih.gov/pubmed/35328090
http://dx.doi.org/10.3390/genes13030537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955492/
https://www.ncbi.nlm.nih.gov/pubmed/35328090
http://dx.doi.org/10.3390/genes13030537

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