Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L55Q
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C2

NM_000063.6:p.L55Q

Associated Papers

Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Zaug AJ et al.

Nucleic Acids Research, 2013

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

Giliani S et al.

Immunological Reviews, 2005

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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."