Associated Papers
Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.
Su JY et al.
Elife, 2025
39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable
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
New ZNF644 mutations identified in patients with high myopia.
Xiang X et al.
Molecular Vision, 2014
Exome sequencing identifies ZNF644 mutations in high myopia.
Shi Y et al.
Plos Genetics, 2011
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