Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.V30Splc
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F9

NM_000133.4:p.V30Splc

Associated Papers

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

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia.

Losekoot M et al.

British Journal of Haematology, 1990

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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."