Associated Papers
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
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Genomes_LOF
Red blood cell PK deficiency: An update of PK-LR gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2016
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2013
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
A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.
Sappal BS et al.
Molecular Genetics and Metabolism, 2002
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