Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.M318fs
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RIPK1

NM_001354930.2:p.M318fs

Associated Papers

Innate immune inflammatory cell death: PANoptosis and PANoptosomes in host defense and disease.

Chen W et al.

European Journal of Immunology, 2023

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Li Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

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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."