Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.M318delFs
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RIPK1

NM_001354930.2:p.M318delFs

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

RIPK1-Associated Inborn Errors of Innate Immunity.

Zhang J et al.

Frontiers in Immunology, 2021

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y et al.

Journal of Human Genetics, 2019

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."