Associated Papers
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Nixon T et al.
Molecular Genetics & Genomic Medicine, 2020
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