Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P302S
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MECP2

NM_004992.4:p.P302S

Associated Papers

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

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D et al.

Journal of Human Genetics, 2007

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.

Bzduch V et al.

Bratislavske Lekarske Listy, 2004

[Analysis of the most frequent mutations in girls with Rett syndrome].

Rosipal R et al.

Casopis Lekaru Ceskych, 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."