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Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis.
Cláudia Santos Silva
Miguel Oliveira Santos
João Madureira
Sofia Reimão
Mamede de Carvalho
Published in:
Acta neurologica Belgica (2022)
Keyphrases
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amyotrophic lateral sclerosis
copy number
young adults
genome wide
early onset
childhood cancer
dna methylation
gene expression