Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.R313W
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ADA

NM_000022.4:p.R313W

Associated Papers

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Essadssi S et al.

Journal of Immunology Research, 2019

31781678 (PubMed )
Supplement: 5902391.f1.pdf

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.

Masuda A et al.

Human Molecular Genetics, 2008

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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."