Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.T76I
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C2

NM_000063.6:p.T76I

Associated Papers

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

Mycobacterium tuberculosis isolates from Rio de Janeiro reveal unusually low correlation between pyrazinamide resistance and mutations in the pncA gene.

Bhuju S et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2013

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Biguzzi E et al.

Human Mutation, 2005

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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."