Associated Papers
Unveiling the prenatal features of HADDS: A case report and literature review.
Hu L et al.
Heliyon, 2025
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.
Won DG et al.
Bioinformatics (oxford, England), 2021
A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy.
Huang Y et al.
Frontiers in Genetics, 2021
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