Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K345K
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MECP2

NM_004992.4:p.K345K

Associated Papers

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

Rajaei S et al.

Journal of Child Neurology, 2011

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G et al.

European Journal of Medical Genetics, 0

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