Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.T76M
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UNC13D

NM_199242.3:p.T76M

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Functional role of UNC13D in immune diseases and its therapeutic applications.

Duong VT et al.

Frontiers in Immunology, 2024

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

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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."