Varaico: Literature-Extracted Genetic Variants

Gene:PTPN13
Variant:p.S1004del1
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PTPN13

NM_080683.3:p.S1004del1

Associated Papers

Altered PTPN13-β-catenin interaction by pathogenic mutations and involvement of this axis in B-cell receptor signalling.

Cabrera-Riofrío DA et al.

Scientific Reports, 2025

Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia.

Moshiri H et al.

Leukemia, 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."