Associated Papers
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Lecerf K et al.
Rheumatology (oxford, England), 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1
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