Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.L240_R241Splc
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ABCA1

NM_005502.4:p.L240_R241Splc

Associated Papers

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.

Rhyne J et al.

Bmc Medical Genetics, 2009

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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."