Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.L106V
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ADA

NM_000022.4:p.L106V

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

ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.

Okura Y et al.

British Journal of Haematology, 2011

Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy.

Otsu M et al.

Human Gene Therapy, 2002

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

Jiang C et al.

Human Molecular Genetics, 1997

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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."