Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L
Variant:p.C127Y
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SEL1L

NM_005065.6:p.C127Y

Associated Papers

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.

Weis D et al.

The Journal of Clinical Investigation, 2024

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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."