Associated Papers
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Steward CA et al.
Genome Medicine, 2017
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