Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S387_K389delFs
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MECP2

NM_001110792.2:p.S387_K389delFs

Associated Papers

Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.

Pintaudi M et al.

The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry, 2016

26469135 (PubMed )
Supplement: supplement_1.pdf

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K et al.

Journal of Human Genetics, 2011

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