Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.V678_L679del2
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JAK3

NM_000215.4:p.V678_L679del2

Associated Papers

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease.

Al-Saud B et al.

Journal of Clinical Immunology, 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."