Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.R28delFs
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BTK

NM_000061.3:p.R28delFs

Associated Papers

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK et al.

Allergy, Asthma & Immunology Research, 2020

A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia.

Lee J et al.

Korean Journal of Pediatrics, 2016

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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."