Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L248R
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NOD2

NM_022162.3:p.L248R

Associated Papers

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.

Horowitz JE et al.

Scientific Reports, 2021

33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S3

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.

Batlle-Masó L et al.

European Journal of Medical Genetics, 2020

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Complete mutational spectrum of the autophagy interactome: a novel class of tumor suppressor genes in myeloid neoplasms.

Visconte V et al.

Leukemia, 2017

27773925 (PubMed )
Supplement: NIHMS816399-supplement-3.xlsx › Sheet1

Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.

Parkhouse R et al.

Frontiers in Immunology, 2015

Expanding the Cutaneous Presentation of Blau Syndrome, Response to Treatment, and Correlation With Genetics.

Mohandesi NA et al.

Pediatric Dermatology, 0

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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."