Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with genetic and phenotypic heterogeneity. Pathogenic genetic variants remain the only validated cause of disease, the majority of which were discovered in familial ALS patients. While causal gene variants are a les...

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Detalles Bibliográficos
Autores principales: McCann, Emily P., Grima, Natalie, Fifita, Jennifer A., Chan Moi Fat, Sandrine, Lehnert, Klaus, Henden, Lyndal, Blair, Ian P., Williams, Kelly L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657717/
https://www.ncbi.nlm.nih.gov/pubmed/37638449
http://dx.doi.org/10.3233/JND-230148

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