Varaico: Literature-Extracted Genetic Variants

Gene:HCK
Variant:p.Y515*
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HCK

NM_002110.5:p.Y515*

Associated Papers

Novel HCK-associated mutation causing autoinflammatory disorder with pulmonary manifestations in a pediatric patient.

Berdeli A et al.

Pediatric Rheumatology Online Journal, 2025

The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.

Gül A et al.

Nature Reviews. Rheumatology, 2025

Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.

Kanderova V et al.

The Journal of Allergy and Clinical Immunology, 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."