Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S194S
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MECP2

NM_004992.4:p.S194S

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

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Das DK et al.

Gene, 2013

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