Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.L321R
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RIPK1

NM_001354930.2:p.L321R

Associated Papers

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases.

Merlo Pich LM et al.

The Febs Journal, 2024

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Tapiz I Reula AJ et al.

Journal of 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."