Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.
Zhao C et al.
Frontiers in Pediatrics, 2023
Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.
Xu F et al.
Frontiers in Medicine, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S et al.
International Journal of Molecular Sciences, 2021
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.
Jin C et al.
Molecular Vision, 2010
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
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