Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.Q227E
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MECP2

NM_004992.4:p.Q227E

Associated Papers

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Bernstein U et al.

Molecular Syndromology, 2019

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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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."