Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.A67_V68Splc
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SHARPIN

NM_030974.4:p.A67_V68Splc

Associated Papers

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY et al.

Frontiers in Immunology, 2018

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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."