Analysis of the Phenotypes in the Rett Networked Database

Figure 1

(a) Cumulative distribution plots of the patients positive for a MECP2 mutation. Mutations were grouped based on Arg106Trp, Arg133Cys, Thr158Met, Arg306Cys, Arg168, Arg255, Arg270, Arg294, late truncating mutations (LTM), large deletions, and all other mutations. Early truncating mutations correspond to mutations interrupting the protein before amino acid 310. Large deletions correspond to deletions including either a single exon or the entire gene. (b) Cumulative distribution of the patients positive for a FOXG1 mutation. Mutations were grouped as early truncating mutations (mutations interrupting protein before amino acid 275), late truncating mutations, gene deletions (deletions involving either single exons or the entire gene), and missense mutations.

(a)

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