Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.P104L
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ADA

NM_000022.4:p.P104L

Associated Papers

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

Tabassum I et al.

International Journal of Molecular Sciences, 2025

41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Barreiros LA et al.

Journal of Clinical Immunology, 2022

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

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS

Current Opinion in Immunology, 2003

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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."