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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS23

Variant:p.V20I

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MRPS23

NM_016070.4:p.V20I

hg38:chr17:57849397 C>T

Associated Papers

Combined immunodeficiency in a patient with c-Rel deficiency.

Beaussant-Cohen S et al.

The Journal of Allergy and Clinical Immunology, 2019

31103457 (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."