Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.A439V
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NOD2

NM_001370466.1:p.A439V

Associated Papers

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.

Yun M et al.

Frontiers in Immunology, 2023

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Lv X et al.

Annals of Hematology, 2020

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.

Touitou I

Journal of Medical Genetics, 2013

Hereditary autoinflammatory syndromes: a Brazilian multicenter study.

Jesus AA et al.

Journal of Clinical Immunology, 2012

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Hoffman HM et al.

Nature Genetics, 2001

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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."