Associated Papers
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
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