Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.E614*
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ITGB2

NM_000211.5:p.E614*

Associated Papers

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Kambli PM et al.

Frontiers in Immunology, 2020

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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."