Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V122A
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MECP2

NM_004992.4:p.V122A

Associated Papers

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Runge K et al.

Molecular Psychiatry, 2021

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L et al.

Journal of Human Genetics, 2016

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

McWilliam C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."