Varaico: Literature-Extracted Genetic Variants

Gene:PTPN2
Variant:p.Y126N
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PTPN2

NM_002828.4:p.Y126N

Associated Papers

Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity.

Crickx E et al.

American Journal of Hematology, 2025

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

Jeanpierre M et al.

The Journal of Experimental Medicine, 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."