Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.K414_L415Splc
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HEXB

NM_000521.4:p.K414_L415Splc

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

Genome-wide detection of human variants that disrupt intronic branchpoints.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants

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

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

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