Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P et al.
Npj Genomic Medicine, 2019
31452935 (PubMed )
Supplement: 41525_2019_93_MOESM12_ESM.xlsx › de_novo_SNV_indel
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