Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.E321K
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ADA

NM_000022.4:p.E321K

Associated Papers

Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.

Tomomasa D et al.

Clinical Immunology (orlando, Fla.), 2025

Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.

Shinwari K et al.

Frontiers in Molecular Biosciences, 2022

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

Watson CM et al.

Journal of Clinical Immunology, 2019

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