Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Rota IA et al.
Science Advances, 2021
34860543 (PubMed )
Supplement: sciadv.abj9247_sm.pdf
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