Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.E139Q
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ADA

NM_000022.4:p.E139Q

Associated Papers

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.

Andriessen MVE et al.

Journal of Clinical Immunology, 2023

Hereditary spastic paraplegia.

Murala S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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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."