Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S357del1
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MECP2

NM_004992.4:p.S357del1

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

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Zahorakova D et al.

Journal of Human Genetics, 2016

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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."