Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.I303M
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MECP2

NM_004992.4:p.I303M

Associated Papers

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S2_new.xlsx › Sheet1

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V et al.

Brain & Development, 2012

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Kammoun F et al.

Journal of Medical Genetics, 2004

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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."