Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.A151insFs
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ARX

NM_139058.3:p.A151insFs

Associated Papers

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge C et al.

European Journal of Human Genetics : Ejhg, 2012

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Mastrangelo M et al.

Pediatric Neurology, 2012

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T et al.

Human Molecular Genetics, 2002

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