Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.N160Splc
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ADA

NM_000022.4:p.N160Splc

Associated Papers

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

Cesana D et al.

Nature Communications, 2024

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C et al.

Frontiers in Immunology, 2019

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
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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."