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

Dilliott, Allison A; Kwon, Seulki; Rouleau, Guy A; Iqbal, Sumaiya; Farhan, Sali M K

Dilliott, Allison A; Kwon, Seulki; Rouleau, Guy A; Iqbal, Sumaiya; Farhan, Sali M K.

Afiliación

Dilliott AA; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.
Kwon S; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada.
Rouleau GA; The Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Iqbal S; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 0G4, Canada.
Farhan SMK; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada.

Brain ; 146(11): 4608-4621, 2023 11 02.

Article en En | MEDLINE | ID: mdl-37394881

Asunto(s)

Esclerosis Amiotrófica Lateral; Humanos; Esclerosis Amiotrófica Lateral/genética; Transcriptoma/genética; Proteómica; Mutación Missense/genética; Pruebas Genéticas

Palabras clave

amyotrophic lateral sclerosis; missense variants; protein features; transcriptomic features; variants of uncertain significance

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Canadá

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