Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K235insFs
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MECP2

NM_001110792.2:p.K235insFs

Associated Papers

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S et al.

Scientific Reports, 2017

28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf

MECP2 mutations in Serbian Rett syndrome patients.

Djarmati A et al.

Acta Neurologica Scandinavica, 2007

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

Giunti L et al.

Brain & Development, 2001

DHPLC analysis of the MECP2 gene in Italian Rett patients.

Nicolao P et al.

Human Mutation, 2001

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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."