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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMTA1

Variant:p.I790M

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CAMTA1

NM_015215.4:p.I790M

hg38:chr1:7664917 C>G

Associated Papers

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

Alosaimi MF et al.

The Journal of Allergy and Clinical Immunology, 2019

30872117 (PubMed )

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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."