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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAPBP

Variant:p.R117delFs

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TAPBP

NM_003190.5:p.R117delFs

hg38:chr6:33313336 CG>C

Associated Papers

A new case of congenital ficolin-3 deficiency with primary immunodeficiency.

Babaha F et al.

Expert Review of Clinical Immunology, 2020

32634042 (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."