Varaico: Literature-Extracted Genetic Variants

Gene:PTPN13
Variant:p.W1274C
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PTPN13

NM_080683.3:p.W1274C

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

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Iruzubieta P et al.

Brain : a Journal of Neurology, 2024

38366623 (PubMed )
Supplement: awae046_supplementary_data.zip › brain-2023-01831-File011.xlsx › F1.II.2

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

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

Moshiri H et al.

Leukemia, 2022

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