Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P388_P391delFs
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MECP2

NM_001110792.2:p.P388_P391delFs

Associated Papers

Rett syndrome in Ireland: a demographic study.

Zade K et al.

Orphanet Journal of Rare Diseases, 2024

Endocrine disorders in Rett syndrome: a systematic review of the literature.

Pepe G et al.

Frontiers in Endocrinology, 2024

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

Bernstein U et al.

Molecular Syndromology, 2019

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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."