Associated Papers
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A et al.
American Journal of Human Genetics, 2002
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