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: Table1.xlsx › TableS1
Epidemiological aspects of hereditary fructose intolerance: A database study.
Pinheiro FC et al.
Human Mutation, 2021
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