Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G115delFs
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MECP2

NM_001110792.2:p.G115delFs

Associated Papers

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 2022

35318820 (PubMed )
Supplement: MGG3-10-e1917-s002.xlsx › Sheet1

Rett syndrome and MeCP2.

Liyanage VR et al.

Neuromolecular Medicine, 2014

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T et al.

Human Mutation, 2001

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C 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."