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genocopy

sciences naturelles et appliquées - acta.es
Mutant huntingtin gene-dose impacts on aggregate deposition, darpp32 expression and neuroinflammation in hdhq150 mice.... HdhQ150 mice genocopy a pathogenic repeat (∼150 CAGs) in the endogenous mouse huntingtin gene and model predominantly pre-manifest HD....
général - core.ac.uk - PDF: doaj.org
Case report valproate treatment in an als patient carrying a c.194g>a spastin mutation and smn2 homozygous deletion... Exploring the relationship genocopy-phenocopy in selected ALS patients might represent an interesting strategy for understanding its clinical variability....


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