Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.I557_T558Splc
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ABCC8

NM_000352.6:p.I557_T558Splc

Associated Papers

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

Persistent hyperinsulinaemic hyperglycaemia of infancy-derived cells; implications for beta-cells that replicate in vitro.

Dunne MJ et al.

Journal of Molecular Endocrinology, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."