Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.R264C
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EXOSC6

NM_058219.3:p.R264C

Associated Papers

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Topyildiz E et al.

Case Reports in Immunology, 2022

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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."