Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P191delFs
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MECP2

NM_001110792.2:p.P191delFs

Associated Papers

Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.

Srinath S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

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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