Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A246insFs
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MECP2

NM_001110792.2:p.A246insFs

Associated Papers

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."