Associated Papers
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.
Ganakammal SR et al.
Peerj, 2019
31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
Bourdon V et al.
Human Genetics, 2001
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C et al.
European Journal of Medical Genetics, 0
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