Varaico: Literature-Extracted Genetic Variants

Gene:IGLL1
Variant:p.S123C
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IGLL1

NM_020070.4:p.S123C

Associated Papers

Two case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine.

Boyarchuk O et al.

Frontiers in Pediatrics, 2025

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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."