Varaico: Literature-Extracted Genetic Variants

Gene:RFX5
Variant:p.E253Splc
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RFX5

NM_001025603.2:p.E253Splc

Associated Papers

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency.

Chen S et al.

Frontiers in Genetics, 2022

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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."